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 9:35076442 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002255 ; PhenCode FANCG:c.1066C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11554

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

9:g.35076442G>A
ENST00000425676.5:c.*542C>T
ENST00000476212.1:n.44+80C>T
ENST00000474894.1:n.271C>T
ENST00000378643.7:c.1066C>T
ENSP00000367910.3:p.Gln356Ter
LRG_657:g.1301C>T
LRG_499:g.8575C>T
LRG_499t1:c.1066C>T
LRG_499p1:p.Gln356Ter

About this variant

This variant overlaps 14 transcripts and is associated with 2 phenotypes.

Variant displays