Original source

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

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

Chromosome 2:96254998 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS101230

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

LSDB NM_017849.3:c.245-1G>T

This variant has 6 HGVS names - click the plus to show

2:g.96254998C>A
ENST00000435268.1:c.-8-1G>T
ENST00000258439.7:c.245-1G>T
ENST00000432959.1:c.245-1G>T
LRG_528:g.16016G>T
LRG_528t1:c.245-1G>T

About this variant

This variant overlaps 4 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays