Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

17:g.41610549T>A
ENST00000301653.6:c.1062A>T
ENSP00000301653.3:p.Lys354Asn
ENST00000593067.1:c.348A>T
ENSP00000467124.1:p.Lys116Asn

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays