HEXA c.448G>C ;(p.A150P)

Variant ID: 15-72646043-C-G

NM_000520.4(HEXA):c.448G>C;(p.A150P)

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:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: HEXA: Ala150Pro
PubMed Link: 34078906
Variant Present in the following documents:
  • Main text
View BVdb publication page