Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 1:97098598 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM973073

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

1:g.97098598C>T
ENST00000422980.1:n.64+2612C>T
ENST00000370192.6:c.2657G>A
ENSP00000359211.3:p.Arg886His
LRG_722:g.827462G>A
LRG_722t1:c.2657G>A
LRG_722p1:p.Arg886His

This variation has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 2506 individual genotypes, is associated with 3 phenotypes and is mentioned in 3 citations.

Variation displays