This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

Chromosome 13:51946337 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980180

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 60 HGVS names - Show

About this variant

This variant overlaps 39 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays