| Gene ID | 820 |
| Symbol | CAMP |
| Synonymous | CAP-18|CAP18|CRAMP|FALL-39|FALL39|HSD26|LL37 |
| Full name | cathelicidin antimicrobial peptide |
| Gene description | 18 kDa cationic antimicrobial protein |
| Cytoband | 3p21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:600474; HGNC:HGNC:1472; Ensembl:ENSG00000164047; HPRD:02722; Vega:OTTHUMG00000133526 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.109G>A; p.E37K; 3:48223620-48223620 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.397G>T; p.A133S; 3:48225308-48225308 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.397G>T; p.A133S; 3:48225308-48225308 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.455G>T; p.R152I; 3:48225366-48225366 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.267G>A; p.T89T; 3:48224419-48224419 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.271C>T; p.Q91*; 3:48224423-48224423 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.392G>T; p.R131I; 3:48225303-48225303 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.492T>C; p.L164L; 3:48225403-48225403 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.169C>A; p.R57S; 3:48223680-48223680 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.354G>T; p.R118S; 3:48224647-48224647 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.235T>C; p.F79L; 3:48224387-48224387 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.476_477insT; p.L161fs*>11; 3:48225387-48225388 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.309+1G>A; p.?; 3:48224462-48224462 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.484C>T; p.R162W; 3:48225395-48225395 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.306C>T; p.D102D; 3:48224458-48224458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.353G>A; p.R118K; 3:48224646-48224646 |
skin | malignant_melanoma | Substitution - Missense |
c.477delT; p.L161fs*>10; 3:48225388-48225388 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.286G>A; p.D96N; 3:48224438-48224438 |
skin | malignant_melanoma | Substitution - Missense |
c.197C>T; p.T66M; 3:48223708-48223708 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.117G>T; p.V39V; 3:48223628-48223628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.149C>T; p.S50F; 3:48223660-48223660 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.475G>A; p.D159N; 3:48225386-48225386 |
skin | malignant_melanoma | Substitution - Missense |
c.307G>A; p.G103R; 3:48224459-48224459 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.418C>T; p.R140W; 3:48225329-48225329 |
liver | carcinoma | Substitution - Missense |
c.418C>T; p.R140W; 3:48225329-48225329 |
liver | carcinoma | Substitution - Missense |
c.418C>T; p.R140W; 3:48225329-48225329 |
liver | carcinoma | Substitution - Missense |
c.350C>T; p.A117V; 3:48224643-48224643 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |