Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 9:35078338 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM982051 ; PhenCode FANCG:c.313G>T (C/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11551

HGVS names

This variant has 10 HGVS names - Hide

9:g.35078338C>A
ENST00000448890.1:c.313G>T
ENSP00000409607.1:p.Glu105Ter
ENST00000425676.5:c.307+267G>T
ENST00000461149.1:n.48G>T
ENST00000378643.7:c.313G>T
ENSP00000367910.3:p.Glu105Ter
LRG_499:g.6679G>T
LRG_499t1:c.313G>T
LRG_499p1:p.Glu105Ter

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays