Original source

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

Alleles
G/A/C/T | Ancestral: G | Ambiguity code: N | MAF: < 0.01 (T)
Location

Chromosome 1:158685251 (forward strand) | View in location tab

Co-located

with COSMIC COSM1499094 (G/C) ; HGMD-PUBLIC CM890106

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5431

This variant has 18 HGVS names - click the plus to show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays