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 11:47339757 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981326 ; PhenCode FHC0045 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_003918

This variant has 12 HGVS names - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2 sample genotypes and is associated with 3 phenotypes.

Variant displays