Original source

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

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

Chromosome 9:95150056 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930240 ; PhenCode FANCC:c.553C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6270

This variant has 10 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays