Original source

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

Alleles
C/A/G|Ancestral: C|Ambiguity code: V
Location

Chromosome 7:22977340 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS064403

Most severe consequence
 
Splice donor variant
Evidence status

Clinical significance

Synonyms

LSDB NM_032581.3:c.414+1G>T, NM_032581.2:c.414+1G>C

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
7:g.22977340C>A
ENST00000440481.5:c.569+1G>T
ENST00000432176.6:c.414+1G>T
ENST00000477349.5:n.504+1G>T
ENST00000409923.5:c.414+1G>T

Variant allele G
7:g.22977340C>G
ENST00000440481.5:c.569+1G>C
ENST00000432176.6:c.414+1G>C
ENST00000477349.5:n.504+1G>C
ENST00000409923.5:c.414+1G>C

About this variant

This variant overlaps 10 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays