ClinVar

NM_001931.5(DLAT):c.165C>G (p.Val55=)

Gene:

DLAT:dihydrolipoamide S-acetyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 112025637 (on Assembly GRCh38)
• Chr11: 111896361 (on Assembly GRCh37)

Preferred name:

NM_001931.5(DLAT):c.165C>G (p.Val55=)

HGVS:

• NC_000011.10:g.112025637C>G
• NG_013342.1:g.5824C>G
• NM_001372031.1:c.165C>G
• NM_001372032.1:c.165C>G
• NM_001372033.1:c.165C>G
• NM_001372034.1:c.165C>G
• NM_001372035.1:c.165C>G
• NM_001372036.1:c.124C>G
• NM_001372037.1:c.111+13C>G
• NM_001372038.1:c.165C>G
• NM_001372039.1:c.165C>G
• NM_001372040.1:c.165C>G
• NM_001372041.1:c.165C>G
• NM_001372042.1:c.-302C>G
• NM_001931.5:c.165C>GMANE SELECT
• NP_001358960.1:p.Val55=
• NP_001358961.1:p.Val55=
• NP_001358962.1:p.Val55=
• NP_001358963.1:p.Val55=
• NP_001358964.1:p.Val55=
• NP_001358965.1:p.Pro42Ala
• NP_001358967.1:p.Val55=
• NP_001358968.1:p.Val55=
• NP_001358969.1:p.Val55=
• NP_001358970.1:p.Val55=
• NP_001922.2:p.Val55=
• NP_001922.2:p.Val55=
• NC_000011.9:g.111896361C>G
• NM_001931.4:c.165C>G
• NR_164072.1:n.230C>G

This HGVS expression did not pass validation

Protein change:

P42A

Links:

dbSNP: rs199520186

NCBI 1000 Genomes Browser:

rs199520186

Molecular consequence:

• NM_001372042.1:c.-302C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001372037.1:c.111+13C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001372036.1:c.124C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_164072.1:n.230C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001372031.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372032.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372033.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372034.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372035.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372038.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372039.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372040.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372041.1:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001931.5:c.165C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1