Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 11:64751597 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS032423

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

LSDB 15737

HGVS names

This variant has 6 HGVS names - Hide

11:g.64751597C>T
ENST00000462303.1:n.151G>A
ENST00000164139.3:c.1827G>A
ENST00000164139.3:c.1827G>A(p.=)
ENST00000377432.7:c.1563G>A
ENST00000377432.7:c.1563G>A(p.=)

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays