This variation has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
A/C/G/T | Ancestral: A | Ambiguity code: N
Location

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

Variant allele T
17:g.41612327A>T
ENST00000588319.1:n.439T>A
ENST00000301653.7:c.362T>A
ENSP00000301653.3:p.Met121Lys
ENST00000593067.1:c.-312-41T>A

Variant allele C
17:g.41612327A>C
ENST00000588319.1:n.439T>G
ENST00000301653.7:c.362T>G
ENSP00000301653.3:p.Met121Arg
ENST00000593067.1:c.-312-41T>G

Variant allele G
17:g.41612327A>G
ENST00000588319.1:n.439T>C
ENST00000301653.7:c.362T>C
ENSP00000301653.3:p.Met121Thr
ENST00000593067.1:c.-312-41T>C

About this variant

This variant overlaps 12 transcripts and is associated with 5 phenotypes.

Variation displays