Original source

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

Alleles
T/C/G|Ancestral: T|Ambiguity code: B
Location

Chromosome 5:151829060 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM950593, CM062763

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000171.3:c.920A>C, NM_000171.3:c.920A>G, 2267

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays