Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.13 (T)
Location

Chromosome 1:209790735 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM052248

Most severe consequence
 
Missense variant
Evidence status

This variant has 5 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

1:g.209790735C>T
ENST00000542854.5:c.535G>A
ENSP00000440532.1:p.Val179Ile
ENST00000456314.1:c.820G>A
ENSP00000403855.1:p.Val274Ile
ENST00000367021.7:c.820G>A
ENSP00000355988.3:p.Val274Ile

This variant has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 3718 sample genotypes and is mentioned in 27 citations.

Variant displays