Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W|MAF: < 0.01 (A)
Location

Chromosome 17:41610549 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM014062 ; PhenCode HIFD_KRT16:c.1062A>T (T/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

17:g.41610549T>A
ENST00000301653.8:c.1062A>T
ENSP00000301653.3:p.Lys354Asn
ENST00000593067.1:c.348A>T
ENSP00000467124.1:p.Lys116Asn

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays