SI c.1199A>G ;(p.Y400C)

Variant ID: 3-164777035-T-C

NM_001041.3(SI):c.1199A>G;(p.Y400C)

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:

Neonatal isovaleric acidemia in China: A case report and review of literature.

World Journal Of Clinical Cases
Wu, Fang F; Fan, Shu-Juan SJ; Zhou, Xi-Hui XH
Publication Date: 2021-01-16

Variant appearance in text: SI: 1199A>G
PubMed Link: 33521113
Variant Present in the following documents:
  • WJCC-9-436.pdf
View BVdb publication page