Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 1:16991749 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM085956

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_058458

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts.

Variant displays