SIRPG c.53C>T ;(p.T18I)

Variant ID: 20-1638308-G-A

NM_018556.3(SIRPG):c.53C>T;(p.T18I)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.

Bmc Medical Genomics
Ye, Lihua L; Wang, Li L; Peng, Kexin K; Fang, Ou O; Tian, Zhen Z; Li, Caihua C; Fu, Xiaopeng X; Chen, Qingdong Q; Chen, Jia J; Luan, Jing J; Zhang, Zhenghua Z; Zhang, Qiaoan Q
Publication Date: 2022-08-05

Variant appearance in text: SIRPG: 53C>T; Thr18Ile
PubMed Link: 35932013
Variant Present in the following documents:
  • 12920_2022_1324_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page