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 1:235830270 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970310 ; PhenCode LYSTbase_D0020:g.37656C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14321, NM_000081.2:c.148C>T

This variant has 9 HGVS names - click the plus to show

1:g.235830270G>A
ENST00000489585.5:n.699C>T
ENST00000468107.5:n.675C>T
ENST00000465349.5:n.699C>T
ENST00000389793.6:c.148C>T
ENSP00000374443.2:p.Arg50Ter
ENST00000389794.7:c.148C>T
ENSP00000374444.4:p.Arg50Ter
ENST00000468626.2:n.279C>T

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays