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

Chromosome 9:133353893 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM000442

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 21 HGVS names - click the plus to show

Variant allele A
9:g.133353893C>A
ENST00000371974.7:c.371G>T
ENSP00000361042.3:p.Gly124Val
ENST00000437995.1:n.317G>T
ENST00000615505.4:c.44G>T
ENSP00000482067.1:p.Gly15Val
ENST00000495952.5:n.361G>T

Variant allele T
9:g.133353893C>T
ENST00000371974.7:c.371G>A
ENSP00000361042.3:p.Gly124Glu
ENST00000437995.1:n.317G>A
ENST00000615505.4:c.44G>A
ENSP00000482067.1:p.Gly15Glu
ENST00000495952.5:n.361G>A

Variant allele G
9:g.133353893C>G
ENST00000371974.7:c.371G>C
ENSP00000361042.3:p.Gly124Ala
ENST00000437995.1:n.317G>C
ENST00000615505.4:c.44G>C
ENSP00000482067.1:p.Gly15Ala
ENST00000495952.5:n.361G>C

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 66 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays