Original source

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

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

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

Co-located

with COSMIC COSM1179616 (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003243.4:c.2519C>T

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

About this variant

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

Variant displays