Original source

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

Alleles
A/G/T|Ancestral: A|Ambiguity code: D
Location

Chromosome 17:41612327 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM013759, CM112598 ; PhenCode HIFD_KRT16:c.362T>C (A/G), HIFD_KRT16:c.362T>A (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

Variant allele T
17:g.41612327A>T
ENST00000588319.1:n.439T>A
ENST00000593067.1:c.-312-41T>A
ENST00000301653.8:c.362T>A
ENSP00000301653.3:p.Met121Lys

Variant allele G
17:g.41612327A>G
ENST00000588319.1:n.439T>C
ENST00000593067.1:c.-312-41T>C
ENST00000301653.8:c.362T>C
ENSP00000301653.3:p.Met121Thr

About this variant

This variant overlaps 8 transcripts and is associated with 5 phenotypes.

Variant displays