Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K | MAF: 0.41 (T)
Location

Chromosome 7:128938247 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS050392

Most severe consequence
 
Splice donor variant
Evidence status

Clinical significance

Synonyms

Archive dbSNP rs2402939

This variant has 12 HGVS names - click the plus to show

7:g.128938247T>G
ENST00000489702.5:c.-12+413T>G
ENST00000613821.4:c.-12+198T>G
ENST00000488569.5:n.113+198T>G
ENST00000249375.8:c.-12+2T>G
ENST00000479582.5:c.-125+198T>G
ENST00000461416.1:n.69+198T>G
ENST00000473787.5:c.-12+198T>G
ENST00000357234.9:c.-12+198T>G
ENST00000464557.5:c.-158+198T>G
ENST00000402030.6:c.-12+198T>G
ENST00000477535.5:c.-12+198T>G

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 15 transcripts, 1 regulatory feature, has 2507 sample genotypes, is associated with 3 phenotypes and is mentioned in 129 citations.

Variant displays