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

Co-located

with HGMD-PUBLIC CM085956

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_058458

This variant has 11 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts.

Variant displays