Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)
Location

Chromosome 1:67240275 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM066884

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

1:g.67240275G>A
ENST00000347310.9:c.1142G>A
ENSP00000321345.5:p.Arg381Gln
ENST00000425614.3:c.377G>A
ENSP00000387640.2:p.Arg126Gln
ENST00000395227.2:c.-58-15562G>A
ENST00000473881.2:c.191-15562G>A

This variant has assays on 15 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 3835 sample genotypes, is associated with 20 phenotypes and is mentioned in 236 citations.

Variant displays