ClinVar

NM_002225.5(IVD):c.*261G>A

Gene:

IVD:isovaleryl-CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 40418524 (on Assembly GRCh38)
• Chr15: 40710723 (on Assembly GRCh37)

Preferred name:

NM_002225.5(IVD):c.*261G>A

HGVS:

• NC_000015.10:g.40418524G>A
• NG_011986.2:g.18040G>A
• NM_001159508.3:c.*261G>A
• NM_001354597.3:c.*261G>A
• NM_001354598.3:c.1138+2162G>A
• NM_001354599.3:c.*261G>A
• NM_001354600.3:c.1225+2162G>A
• NM_001354601.3:c.1138+2162G>A
• NM_002225.5:c.*261G>AMANE SELECT
• NC_000015.9:g.40710723G>A
• NM_002225.3:c.*261G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2075624

NCBI 1000 Genomes Browser:

rs2075624

Molecular consequence:

• NM_001159508.3:c.*261G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354597.3:c.*261G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354599.3:c.*261G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_002225.5:c.*261G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354598.3:c.1138+2162G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354600.3:c.1225+2162G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354601.3:c.1138+2162G>A - intron variant - [Sequence Ontology: SO:0001627]