This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|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 variants
Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 15 HGVS names - Hide

Variant allele T
17:g.41612318A>T
ENST00000588319.1:n.448T>A
ENST00000301653.8: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
ENST00000301653.8: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
ENST00000301653.8:c.371T>C
ENSP00000301653.3:p.Leu124Pro
ENST00000593067.1:c.-312-32T>C

About this variant

This variant overlaps 12 transcripts and is associated with 6 phenotypes.

Variant displays