Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 14:50924101 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS982336

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

LSDB NM_002863.3:c.529-1G>C

This variant has 5 HGVS names - click the plus to show

14:g.50924101C>G
ENST00000216392.7:c.529-1G>C
ENST00000532462.5:c.529-1G>C
ENST00000530336.2:n.596-1G>C
ENST00000544180.6:c.427-1G>C

About this variant

This variant overlaps 5 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays