Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 19:41970468 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM042307

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5380, NM_152296.3:c.2338T>C

This variant has 11 HGVS names - click the plus to show

About this variant

This variant overlaps 5 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays