Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B|MAF: < 0.01 (G)
Location

Chromosome 14:24259099 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971480

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5794

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays