SI c.658T>G ;(p.L220V)

Variant ID: 3-164783198-A-C

NM_001041.3(SI):c.658T>G;(p.L220V)

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:

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Pierce, Sarah B SB; Chisholm, Karen M KM; Lynch, Eric D ED; Lee, Ming K MK; Walsh, Tom T; Opitz, John M JM; Li, Weiqing W; Klevit, Rachel E RE; King, Mary-Claire MC
Publication Date: 2011-04-19

Variant appearance in text: SI: L220V
PubMed Link: 21464306
Variant Present in the following documents:
  • Main text
View BVdb publication page