Original source

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

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

Chromosome 2:26464868 (forward strand)|View in location tab

Co-located variants
Most severe consequence
 
Splice donor variant
Evidence status

Clinical significance

Synonyms

LSDB DFNB9_42

HGVS names

This variant has 7 HGVS names - Hide

2:g.26464868C>G
ENST00000403946.7:c.4960+1G>C
ENST00000464574.1:n.709+1G>C
ENST00000338581.10:c.2659+1G>C
ENST00000272371.6:c.4960+1G>C
ENST00000339598.7:c.2659+1G>C
ENST00000402415.7:c.2890+1G>C

About this variant

This variant overlaps 6 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays