Original source

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

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

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

Co-located

with 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

This variant has 12 HGVS names - click the plus to show

About this variant

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

Variant displays