Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (T)
Location

Chromosome 1:158685251 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1499094 ; HGMD-PUBLIC CM890106

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5431

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays