ClinVar

NM_002860.4(ALDH18A1):c.809-1G>C

Gene:

ALDH18A1:aldehyde dehydrogenase 18 family member A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.1

Genomic location:

• Chr10: 95628493 (on Assembly GRCh38)
• Chr10: 97388250 (on Assembly GRCh37)

Preferred name:

NM_002860.4(ALDH18A1):c.809-1G>C

HGVS:

• NC_000010.11:g.95628493C>G
• NG_012258.1:g.33318G>C
• NM_001017423.2:c.803-1G>C
• NM_001323412.2:c.476-1G>C
• NM_001323413.2:c.809-1G>C
• NM_001323414.2:c.809-1G>C
• NM_001323415.2:c.803-1G>C
• NM_001323416.2:c.476-1G>C
• NM_001323417.2:c.704-1G>C
• NM_001323418.2:c.470-1G>C
• NM_001323419.2:c.173-1G>C
• NM_002860.3:c.809-1G>C
• NM_002860.4:c.809-1G>CMANE SELECT
• NC_000010.10:g.97388250C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1202802893

NCBI 1000 Genomes Browser:

rs1202802893

Molecular consequence:

• NM_001017423.2:c.803-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001323412.2:c.476-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001323413.2:c.809-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001323414.2:c.809-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001323415.2:c.803-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001323416.2:c.476-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001323417.2:c.704-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001323418.2:c.470-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001323419.2:c.173-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_002860.4:c.809-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]