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 14:23424875 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM068018, CM054789

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_042809

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays