ClinVar

NM_001321218.2(B9D1):c.473-1G>C

Gene:

B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 19337749 (on Assembly GRCh38)
• Chr17: 19241062 (on Assembly GRCh37)

Preferred name:

NM_001321218.2(B9D1):c.473-1G>C

HGVS:

• NC_000017.11:g.19337749C>G
• NG_031885.2:g.45445G>C
• NM_001321218.2:c.473-1G>C
• NM_001321219.2:c.405-1G>C
• NM_001368769.2:c.113-1G>C
• LRG_686:g.45445G>C
• NC_000017.10:g.19241062C>G
• NM_001321218.1:c.473-1G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs73980009

NCBI 1000 Genomes Browser:

rs73980009

Molecular consequence:

• NM_001321218.2:c.473-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001321219.2:c.405-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001368769.2:c.113-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1