Original source

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

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

Chromosome 2:151880879 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM001065

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 18 HGVS names - Hide

2:g.151880879C>A
ENST00000534999.5:c.209G>T
ENSP00000443893.1:p.Cys70Phe
ENST00000397327.6:c.170G>T
ENSP00000380490.2:p.Cys57Phe
ENST00000434468.1:c.170G>T
ENSP00000399242.1:p.Cys57Phe
ENST00000360283.10:c.209G>T
ENSP00000353425.7:p.Cys70Phe
ENST00000427385.5:c.257G>T
ENSP00000410978.1:p.Cys86Phe
ENST00000470066.1:n.216G>T
ENST00000201943.9:c.311G>T
ENSP00000201943.5:p.Cys104Phe
ENST00000539935.5:c.311G>T
ENSP00000438949.1:p.Cys104Phe
ENST00000439467.5:c.296G>T
ENSP00000390161.1:p.Cys99Phe

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2505 sample genotypes and is associated with 5 phenotypes.

Variant displays