Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 1:91683776 (forward strand)|View in location tab

Co-located variant

COSMIC COSM1179616

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003243.4:c.2519C>T

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays