Original source

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

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

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

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

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