ClinVar

NM_002225.5(IVD):c.723C>T (p.Asp241=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 40413026 (on Assembly GRCh38)
• Chr15: 40705225 (on Assembly GRCh37)

Preferred name:

NM_002225.5(IVD):c.723C>T (p.Asp241=)

HGVS:

• NC_000015.10:g.40413026C>T
• NG_011986.2:g.12542C>T
• NM_001159508.3:c.633C>T
• NM_001354597.3:c.675C>T
• NM_001354598.3:c.723C>T
• NM_001354599.3:c.810C>T
• NM_001354600.3:c.810C>T
• NM_001354601.3:c.723C>T
• NM_002225.5:c.723C>TMANE SELECT
• NP_001152980.2:p.Asp211=
• NP_001341526.1:p.Asp225=
• NP_001341527.2:p.Asp241=
• NP_001341528.2:p.Asp270=
• NP_001341529.2:p.Asp270=
• NP_001341530.2:p.Asp241=
• NP_002216.3:p.Asp241=
• NC_000015.9:g.40705225C>T
• NM_001159508.3:c.633C>T
• NM_002225.3:c.732C>T
• NP_002216.2:p.(=)
• NR_148925.2:n.1135C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2229312

NCBI 1000 Genomes Browser:

rs2229312

Molecular consequence:

• NR_148925.2:n.1135C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001159508.3:c.633C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354597.3:c.675C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354598.3:c.723C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354599.3:c.810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354600.3:c.810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354601.3:c.723C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002225.5:c.723C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

14