Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
G/A | Ancestral: A | Ambiguity code: R | MAF: 0.47 (G)
Location

Chromosome 7:128949373 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR072316

Most severe consequence
Evidence status

Clinical significance

This variation has 5 HGVS names - click the plus to show

7:g.128949373G>A
ENST00000465603.3:c.*1580G>A
ENST00000249375.6:c.*555G>A
ENST00000402030.4:c.*555G>A
ENST00000473745.3:c.*555G>A

This variation has assays on 4 chips - click the plus to show

Variation displays