ClinVar

NM_002225.5(IVD):c.456+2T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 40410799 (on Assembly GRCh38)
• Chr15: 40702998 (on Assembly GRCh37)

Preferred name:

NM_002225.5(IVD):c.456+2T>C

HGVS:

• NC_000015.10:g.40410799T>C
• NG_011986.2:g.10315T>C
• NM_001159508.3:c.366+2T>C
• NM_001354597.3:c.408+2T>C
• NM_001354598.3:c.456+2T>C
• NM_001354599.3:c.543+2T>C
• NM_001354600.3:c.543+2T>C
• NM_001354601.3:c.456+2T>C
• NM_002225.5:c.456+2T>CMANE SELECT
• NC_000015.9:g.40702998T>C
• NM_002225.3:c.465+2T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs398123683

NCBI 1000 Genomes Browser:

rs398123683

Molecular consequence:

• NM_001159508.3:c.366+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001354597.3:c.408+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001354598.3:c.456+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001354599.3:c.543+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001354600.3:c.543+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001354601.3:c.456+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_002225.5:c.456+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

4