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 1:235805826 (forward strand) | View in location tab

Co-located

with COSMIC COSM3804440 (G/C) ; HGMD-PUBLIC CM960301 ; PhenCode LYSTbase_D0020:g.62100C>T (G/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_000081.2:c.3310C>T, 14317

This variation has 7 HGVS names - click the plus to show

1:g.235805826G>A
ENST00000489585.4:n.3861C>T
ENST00000465349.4:n.3861C>T
ENST00000389793.5:c.3310C>T
ENSP00000374443.2:p.Arg1104Ter
ENST00000389794.6:c.3310C>T
ENSP00000374444.4:p.Arg1104Ter

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variation displays