Original source

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

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

Chromosome 1:155293177 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM941168

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16499

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays