Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.01 (T)
Location

Chromosome 1:169549811 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM940389

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

1:g.169549811C>T
ENST00000367796.3:c.1601G>A
ENSP00000356770.3:p.Arg534Gln
ENST00000367797.7:c.1601G>A
ENSP00000356771.3:p.Arg534Gln

This variant has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 2 transcripts, has 3278 sample genotypes, is associated with 6 phenotypes and is mentioned in 54 citations.

Variant displays