Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: < 0.01 (G)
Location

Chromosome 8:99820031 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3698729, COSM3698730 ; HGMD-PUBLIC CM041280

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

8:g.99820031A>G
ENST00000358544.6:c.8978A>G
ENSP00000351346.2:p.Asn2993Ser
ENST00000357162.6:c.8903A>G
ENSP00000349685.2:p.Asn2968Ser
LRG_351:g.811766A>G
LRG_351t2:c.8903A>G
LRG_351p2:p.Asn2968Ser
LRG_351t1:c.8978A>G
LRG_351p1:p.Asn2993Ser

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays