| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6007 |
Name | RHD |
Synonymous | CD240D|DIIIc|RH|RH30|RHCED|RHDVA(TT)|RHDel|RHPII|RHXIII|Rh4|RhDCw|RhII|RhK562-II|RhPI;Rh blood group, D antigen;RHD;Rh blood group, D antigen |
Definition | D antigen (DCS)|RH polypeptide 2|Rh blood group antigen Evans|Rhesus system D polypeptide|blood group Rh(D) polypeptide|rhesus D antigen |
Position | 1p36.11 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RHD | ||
PCGP somatic mutation [Top] | ||
There is no record for RHD | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.87delT; p.F31fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.223A>G; p.S75G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.551C>A; p.A184D; |
lung | carcinoma; small_cell_carcinoma |
c.335+6G>A; p.?; |
liver | carcinoma |
c.308C>G; p.S103C; 1:25483810-25483810 |
breast | carcinoma; ductal_carcinoma |
c.1057G>A; p.G353R; |
breast | carcinoma; ductal_carcinoma |
c.255G>T; p.A85A; |
prostate | adenoma |
c.525C>A; p.F175L; |
lung | carcinoma; adenocarcinoma |
c.106G>A; p.A36T; |
lung | carcinoma; squamous_cell_carcinoma |
c.459G>A; p.L153L; |
lung | carcinoma; squamous_cell_carcinoma |
c.604G>A; p.A202T; |
lung | carcinoma; squamous_cell_carcinoma |
c.642C>G; p.L214L; |
lung | carcinoma; squamous_cell_carcinoma |
c.487-1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.986G>C; p.G329A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.188G>C; p.G63A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.433G>A; p.V145M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.710C>T; p.A237V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.125A>T; p.K42M; |
breast | carcinoma |
c.406T>A; p.L136M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.780C>A; p.H260Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.254C>A; p.A85E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.577G>A; p.E193K; |
large_intestine; rectum | NS |
c.711C>A; p.A237A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.280C>A; p.L94M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.100T>C; p.Y34H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.157G>T; p.D53Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.255G>A; p.A85A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.254C>T; p.A85V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.526G>A; p.A176T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.932A>C; p.Y311S; |
breast | carcinoma |
c.411G>A; p.A137A; |
prostate | carcinoma; adenocarcinoma |
c.310G>T; p.G104W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.365C>T; p.S122L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.662C>G; p.P221R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1054G>A; p.V352I; |
cervix | carcinoma; squamous_cell_carcinoma |
c.571C>G; p.L191V; |
breast | carcinoma |
c.72C>T; p.L24L; |
urinary_tract; bladder | carcinoma |
c.1068T>A; p.N356K; |
skin; scalp | malignant_melanoma |