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|MAF: < 0.01 (A)
Location

Chromosome 3:165829781 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM920125

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 27 HGVS names - Hide

Variant allele A
3:g.165829781C>A
ENST00000482958.1:c.1253G>T
ENSP00000419804.1:p.Gly418Val
ENST00000264381.7:c.1253G>T
ENSP00000264381.3:p.Gly418Val
ENST00000479451.5:c.107+7533G>T
ENST00000488954.1:c.107+7533G>T
ENST00000497011.5:c.1253G>T
ENSP00000419505.1:p.Gly418Val

Variant allele T
3:g.165829781C>T
ENST00000482958.1:c.1253G>A
ENSP00000419804.1:p.Gly418Asp
ENST00000264381.7:c.1253G>A
ENSP00000264381.3:p.Gly418Asp
ENST00000479451.5:c.107+7533G>A
ENST00000488954.1:c.107+7533G>A
ENST00000497011.5:c.1253G>A
ENSP00000419505.1:p.Gly418Asp

Variant allele G
3:g.165829781C>G
ENST00000482958.1:c.1253G>C
ENSP00000419804.1:p.Gly418Ala
ENST00000264381.7:c.1253G>C
ENSP00000264381.3:p.Gly418Ala
ENST00000479451.5:c.107+7533G>C
ENST00000488954.1:c.107+7533G>C
ENST00000497011.5:c.1253G>C
ENSP00000419505.1:p.Gly418Ala

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 15 transcripts, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 1 citation.

Variant displays