ClinVar

NM_005989.4(AKR1D1):c.580-1G>A

Gene:

AKR1D1:aldo-keto reductase family 1 member D1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q33

Genomic location:

• Chr7: 138106607 (on Assembly GRCh38)
• Chr7: 137791353 (on Assembly GRCh37)

Preferred name:

NM_005989.4(AKR1D1):c.580-1G>A

HGVS:

• NC_000007.14:g.138106607G>A
• NG_023342.1:g.35176G>A
• NM_001190906.2:c.457-1G>A
• NM_001190907.2:c.580-1G>A
• NM_005989.3:c.580-1G>A
• NM_005989.4:c.580-1G>AMANE SELECT
• NC_000007.13:g.137791353G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs749744865

NCBI 1000 Genomes Browser:

rs749744865

Molecular consequence:

• NM_001190906.2:c.457-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001190907.2:c.580-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_005989.4:c.580-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1