Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Cys242Tyr (p.C242Y) ( ENST00000576024.2, ENST00000504937.5, ENST00000604348.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000510385.5, 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 )
TP53 p.Cys242Tyr (p.C242Y) ( ENST00000269305.9, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000359597.8, ENST00000413465.6, 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 adenocarcinoma
Source Database
ClinVar
Description
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Gastric adenocarcinoma
ClinVar Allele ID
27393
ClinVar RefSeq Alternation Syntax
NM_001276761.3:c.608G>A
ClinVar RefSeq Alternation Syntax
NM_001276696.3:c.608G>A
ClinVar RefSeq Alternation Syntax
NM_001126113.3:c.725G>A
ClinVar RefSeq Alternation Syntax
NM_001276699.3:c.248G>A
ClinVar RefSeq Alternation Syntax
NM_001126117.2:c.329G>A
ClinVar RefSeq Alternation Syntax
NM_000546.6:c.725G>A
ClinVar RefSeq Alternation Syntax
NM_001126115.2:c.329G>A
ClinVar RefSeq Alternation Syntax
NM_001276695.3:c.608G>A
ClinVar RefSeq Alternation Syntax
NM_001276697.3:c.248G>A
ClinVar RefSeq Alternation Syntax
NM_001126112.3:c.725G>A
ClinVar RefSeq Alternation Syntax
NM_001126114.3:c.725G>A
ClinVar RefSeq Alternation Syntax
NM_001276698.3:c.248G>A
ClinVar RefSeq Alternation Syntax
NM_001126118.2:c.608G>A
ClinVar RefSeq Alternation Syntax
NM_001276760.3:c.608G>A
ClinVar RefSeq Alternation Syntax
NM_001126116.2:c.329G>A
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-31
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000419614
ClinVar Disease
Gastric adenocarcinoma
Observed Origin Sample
somatic
Drugs