Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 7:23016959 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS064403

Most severe consequence
Evidence status

Clinical significance

Synonyms

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

This variation has 10 HGVS names - click the plus to show

Variant allele A
7:g.23016959C>A
ENST00000440481.1:c.569+1G>T
ENST00000432176.2:c.414+1G>T
ENST00000477349.1:n.504+1G>T
ENST00000409923.1:c.414+1G>T

Variant allele G
7:g.23016959C>G
ENST00000440481.1:c.569+1G>C
ENST00000432176.2:c.414+1G>C
ENST00000477349.1:n.504+1G>C
ENST00000409923.1:c.414+1G>C

Variation displays