Human (GRCh38.p14)
Most severe consequence
 
splice acceptor variant
Alleles
T/A/C/G|Ancestral: T
Change tolerance
CADD: A:26.2, C:26.9, G:26.2|GERP: 1.92
Location

Chromosome 16:23608014 (forward strand)|VCF:16  23608014  rs1060499827  T  A,C,G

Evidence status

Clinical significance

HGVS names

This variant has 15 HGVS names - Show

Synonyms

This variant has 5 synonyms - Show

Original source

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

About this variant

This variant has predicted consequences for 4 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Description from SNPedia

Description not available [More information from SNPedia]