Original source

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

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

Chromosome 1:43340042 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002060

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4167

This variation has 10 HGVS names - click the plus to show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variation displays