| Gene ID | 6640 |
| Symbol | SNTA1 |
| Synonymous | LQT12|SNT1|TACIP1|dJ1187J4.5 |
| Full name | syntrophin, alpha 1 |
| Gene description | 59 kDa dystrophin-associated protein A1 acidic component 1|acidic alpha 1 syntrophin|alpha-1-syntrophin|dystrophin-associated protein A1, 59kDa, acidic component|pro-TGF-alpha cytoplasmic domain-interacting protein 1|syntrophin, alpha 1 (dystrophin-associ |
| Cytoband | 20q11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:601017; HGNC:HGNC:11167; Ensembl:ENSG00000101400; HPRD:03009; Vega:OTTHUMG00000032259 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1443G>A; p.S481S; 20:33408582-33408582 |
large_intestine; colon | NS | Substitution - coding silent |
c.520C>A; p.P174T; 20:33417900-33417900 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.610C>G; p.P204A; 20:33417810-33417810 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.420G>C; p.G140G; 20:33438917-33438917 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1008G>A; p.R336R; 20:33412328-33412328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1014C>T; p.A338A; 20:33412322-33412322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.977C>T; p.S326F; 20:33412359-33412359 |
skin | malignant_melanoma | Substitution - Missense |
c.711G>T; p.E237D; 20:33412773-33412773 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.630C>T; p.S210S; 20:33417790-33417790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1271C>A; p.S424Y; 20:33408855-33408855 |
liver | carcinoma | Substitution - Missense |
c.1271C>A; p.S424Y; 20:33408855-33408855 |
liver | carcinoma | Substitution - Missense |
c.1351G>A; p.E451K; 20:33408775-33408775 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.372C>T; p.D124D; 20:33438965-33438965 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1112G>C; p.G371A; 20:33410260-33410260 |
pancreas | carcinoma | Substitution - Missense |
c.613A>C; p.T205P; 20:33417807-33417807 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.375G>A; p.Q125Q; 20:33438962-33438962 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.337C>G; p.L113V; 20:33439000-33439000 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1105C>T; p.R369C; 20:33410267-33410267 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1209C>T; p.A403A; 20:33410163-33410163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1394T>C; p.F465S; 20:33408732-33408732 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1513G>T; p.A505S; 20:33408512-33408512 |
breast | carcinoma | Substitution - Missense |
c.398A>G; p.D133G; 20:33438939-33438939 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.684C>T; p.P228P; 20:33417736-33417736 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.648C>T; p.S216S; 20:33417772-33417772 |
skin | malignant_melanoma | Substitution - coding silent |
c.1464C>T; p.F488F; 20:33408561-33408561 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.939G>A; p.L313L; 20:33412397-33412397 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.321G>T; p.E107D; 20:33439016-33439016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.782C>T; p.A261V; 20:33412702-33412702 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.672G>C; p.K224N; 20:33417748-33417748 |
pancreas | carcinoma | Substitution - Missense |
c.782C>T; p.A261V; 20:33412702-33412702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1503C>G; p.L501L; 20:33408522-33408522 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1244C>T; p.T415M; 20:33408882-33408882 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1203C>G; p.H401Q; 20:33410169-33410169 |
NS | malignant_melanoma | Substitution - Missense |
c.557G>A; p.G186D; 20:33417863-33417863 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.853G>A; p.A285T; 20:33412631-33412631 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1361A>T; p.Q454L; 20:33408765-33408765 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1118G>A; p.R373H; 20:33410254-33410254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118G>A; p.R373H; 20:33410254-33410254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.287G>C; p.G96A; 20:33443334-33443334 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1362G>T; p.Q454H; 20:33408764-33408764 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1032C>T; p.I344I; 20:33412304-33412304 |
pancreas | carcinoma | Substitution - coding silent |
c.504T>C; p.Y168Y; 20:33417916-33417916 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1069T>G; p.S357A; 20:33410303-33410303 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.979C>G; p.L327V; 20:33412357-33412357 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.672G>A; p.K224K; 20:33417748-33417748 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1180C>A; p.R394S; 20:33410192-33410192 |
skin | malignant_melanoma | Substitution - Missense |
c.1061C>G; p.S354C; 20:33410311-33410311 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1181G>A; p.R394H; 20:33410191-33410191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1499G>A; p.R500H; 20:33408526-33408526 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.719C>T; p.S240L; 20:33412765-33412765 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.361T>C; p.L121L; 20:33438976-33438976 |
thyroid | carcinoma | Substitution - coding silent |
c.497-7C>T; p.?; 20:33417930-33417930 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1147G>A; p.V383M; 20:33410225-33410225 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1147G>A; p.V383M; 20:33410225-33410225 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.617C>T; p.P206L; 20:33417803-33417803 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1392T>A; p.L464L; 20:33408734-33408734 |
skin | malignant_melanoma | Substitution - coding silent |
c.828G>A; p.K276K; 20:33412656-33412656 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.828G>A; p.K276K; 20:33412656-33412656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.829G>A; p.D277N; 20:33412655-33412655 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.668C>T; p.S223L; 20:33417752-33417752 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1345C>A; p.P449T; 20:33408781-33408781 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |