Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Arg175His (p.R175H) ( ENST00000510385.5, ENST00000504937.5, ENST00000604348.6, ENST00000576024.2, ENST00000445888.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000455263.6, ENST00000420246.6, ENST00000504290.5, ENST00000714357.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg175His (p.R175H) ( ENST00000359597.8, ENST00000269305.9, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
Associated Disease
Gastric cancer
Source Database
ClinVar
Description
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Gastric cancer
ClinVar Allele ID
27413
ClinVar RefSeq Alternation Syntax
NM_001276699.3:c.47G>A
ClinVar RefSeq Alternation Syntax
NM_001276760.3:c.407G>A
ClinVar RefSeq Alternation Syntax
NM_001276698.3:c.47G>A
ClinVar RefSeq Alternation Syntax
NM_001126115.2:c.128G>A
ClinVar RefSeq Alternation Syntax
NM_001126118.2:c.407G>A
ClinVar RefSeq Alternation Syntax
NM_001126117.2:c.128G>A
ClinVar RefSeq Alternation Syntax
NM_001126114.3:c.524G>A
ClinVar RefSeq Alternation Syntax
NM_001126112.3:c.524G>A
ClinVar RefSeq Alternation Syntax
NM_001276696.3:c.407G>A
ClinVar RefSeq Alternation Syntax
NM_001276697.3:c.47G>A
ClinVar RefSeq Alternation Syntax
NM_001276761.3:c.407G>A
ClinVar RefSeq Alternation Syntax
NM_001126116.2:c.128G>A
ClinVar RefSeq Alternation Syntax
NM_000546.6:c.524G>A
ClinVar RefSeq Alternation Syntax
NM_001126113.3:c.524G>A
ClinVar RefSeq Alternation Syntax
NM_001276695.3:c.407G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2021-07-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003162247
ClinVar Disease
Gastric cancer
Observed Origin Sample
germline
Drugs