This variation has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 17:41612318 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM004051, CM056624, CM056623 ; PhenCode HIFD_KRT16:c.371T>G (A/C), HIFD_KRT16:c.371T>C (A/G), HIFD_KRT16:c.371T>A (A/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

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

Variant allele T
17:g.41612318A>T
ENST00000588319.1:n.448T>A
ENST00000301653.6:c.371T>A
ENSP00000301653.3:p.Leu124His
ENST00000593067.1:c.-312-32T>A

Variant allele C
17:g.41612318A>C
ENST00000588319.1:n.448T>G
ENST00000301653.6:c.371T>G
ENSP00000301653.3:p.Leu124Arg
ENST00000593067.1:c.-312-32T>G

Variant allele G
17:g.41612318A>G
ENST00000588319.1:n.448T>C
ENST00000301653.6:c.371T>C
ENSP00000301653.3:p.Leu124Pro
ENST00000593067.1:c.-312-32T>C

Variation displays