HP c.313C>T ;(p.H105Y)

Variant ID: 16-72092200-C-T

NM_005143.3(HP):c.313C>T;(p.H105Y)

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:

A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Oncotarget
Fang, Weiyuan W; Song, Peng P; Xie, Xinbao X; Wang, Jianshe J; Lu, Yi Y; Li, Gang G; Abuduxikuer, Kuerbanjiang K
Publication Date: 2017-10-13

Variant appearance in text: HP: 313C>T
PubMed Link: 29137425
Variant Present in the following documents:
  • Main text
  • oncotarget-08-84309.pdf
View BVdb publication page