SIRPG c.820_822delinsCAT ;(p.R274H)

Variant ID: 20-1616172-CCT-ATG

NM_018556.3(SIRPG):c.820_822delinsCAT;(p.R274H)

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:

Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09

Variant appearance in text: SIRPG: R274H
PubMed Link: 32705272
Variant Present in the following documents:
  • Supplementary_Data1.xlsx, sheet 2
View BVdb publication page