Human (GRCh38.p14)
Most severe consequence
 
splice donor variant
Alleles
CC/C|Ancestral: CC
Change tolerance
GERP: 2.51
Location

Chromosome 16:23641109-23641110 (forward strand)|VCF:16  23641109  rs1060499829  CC  C

Evidence status

Clinical significance

HGVS names

This variant has 4 HGVS names - Show

Synonyms

ClinVar VCV000402309

Original source

Variants (including SNPs and indels) imported from dbSNP (release 156)|View in dbSNP

About this variant

This variant has predicted consequences for 3 transcripts, 1 regulatory feature and is associated with 1 phenotype.

Description from SNPedia

Description not available [More information from SNPedia]