Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 5:151851392 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970685

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2269, NM_000171.3:c.910A>G

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays