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

Chromosome 17:44913333 (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 51 HGVS names - Hide

Variant allele A
17:g.44913333C>A
ENST00000587997.5:c.192G>T
ENSP00000465624.1:p.Arg65Leu
ENST00000585728.5:c.*360G>T
ENST00000588316.1:c.620G>T
ENSP00000465629.1:p.Arg207Leu
ENST00000588957.5:c.-17G>T
ENST00000376990.8:c.*115G>T
ENST00000592320.5:c.618+395G>T
ENST00000435360.6:c.716G>T
ENSP00000403962.1:p.Arg239Leu
ENST00000253408.9:c.716G>T
ENSP00000253408.4:p.Arg239Leu
ENST00000586793.5:c.716G>T
ENSP00000468500.1:p.Arg239Leu
ENST00000590922.1:n.366G>T
ENST00000588735.1:c.82+2072G>T

Variant allele T
17:g.44913333C>T
ENST00000587997.5:c.192G>A
ENSP00000465624.1:p.Arg65His
ENST00000585728.5:c.*360G>A
ENST00000588316.1:c.620G>A
ENSP00000465629.1:p.Arg207His
ENST00000588957.5:c.-17G>A
ENST00000376990.8:c.*115G>A
ENST00000592320.5:c.618+395G>A
ENST00000435360.6:c.716G>A
ENSP00000403962.1:p.Arg239His
ENST00000253408.9:c.716G>A
ENSP00000253408.4:p.Arg239His
ENST00000586793.5:c.716G>A
ENSP00000468500.1:p.Arg239His
ENST00000590922.1:n.366G>A
ENST00000588735.1:c.82+2072G>A

Variant allele G
17:g.44913333C>G
ENST00000587997.5:c.192G>C
ENSP00000465624.1:p.Arg65Pro
ENST00000585728.5:c.*360G>C
ENST00000588316.1:c.620G>C
ENSP00000465629.1:p.Arg207Pro
ENST00000588957.5:c.-17G>C
ENST00000376990.8:c.*115G>C
ENST00000592320.5:c.618+395G>C
ENST00000435360.6:c.716G>C
ENSP00000403962.1:p.Arg239Pro
ENST00000253408.9:c.716G>C
ENSP00000253408.4:p.Arg239Pro
ENST00000586793.5:c.716G>C
ENSP00000468500.1:p.Arg239Pro
ENST00000590922.1:n.366G>C
ENST00000588735.1:c.82+2072G>C

About this variant

This variant overlaps 63 transcripts and is associated with 6 phenotypes.

Variant displays