Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.6503C>G ;(p.S2168W)
Variant ID: 11-108192078-C-G
NM_000051.3(
ATM
):c.6503C>G;(p.S2168W)
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:
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
Translational Neurodegeneration
Cheng, Hao-Ling HL; Shao, Ya-Ru YR; Dong, Yi Y; Dong, Hai-Lin HL; Yang, Lu L; Ma, Yin Y; Shen, Ying Y; Wu, Zhi-Ying ZY
Publication Date: 2021-10-18
Variant appearance in text: rs200431631
PubMed Link:
34663476
Variant Present in the following documents:
Main text
View BVdb publication page