Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome 9:95101742 (forward strand) | View in location tab


with COSMIC COSM1206492 (G/A) ; HGMD-PUBLIC CM930241 ; PhenCode FANCC:c.1642C>T (G/A)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 6273, NM_000136.2:c.1642C>T_1265076212

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays