Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.26 (G)
Location

Chromosome 1:97883329 (forward strand) | View in location tab

Co-located

with COSMIC COSM3735989 (G/A), COSM3735988 (G/A) ; HGMD-PUBLIC CM970421

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 11 HGVS names - click the plus to show

1:g.97883329A>G
ENST00000306031.5:c.85T>C
ENSP00000307107.5:p.Cys29Arg
ENST00000370192.6:c.85T>C
ENSP00000359211.3:p.Cys29Arg
ENST00000460019.1:n.160T>C
LRG_722:g.42731T>C
LRG_722t2:c.85T>C
LRG_722p2:p.Cys29Arg
LRG_722t1:c.85T>C
LRG_722p1:p.Cys29Arg

This variation has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 4036 individual genotypes, is associated with 4 phenotypes and is mentioned in 7 citations.

Variation displays