Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)
Location

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

Co-located

with HGMD-PUBLIC CM920125

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

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

Genotyping chips

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

About this variant

This variant overlaps 5 transcripts, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 1 citation.

Variant displays