ClinVar

NM_005566.4(LDHA):c.*15A>G

Gene:

LDHA:lactate dehydrogenase A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 18407296 (on Assembly GRCh38)
• Chr11: 18428843 (on Assembly GRCh37)

Preferred name:

NM_005566.4(LDHA):c.*15A>G

HGVS:

• NC_000011.10:g.18407296A>G
• NG_008185.1:g.17862A>G
• NM_001135239.2:c.*15A>G
• NM_001165414.2:c.*15A>G
• NM_001165415.2:c.745A>G
• NM_001165416.2:c.*164A>G
• NM_005566.4:c.*15A>GMANE SELECT
• NP_001158887.1:p.Ile249Val
• NC_000011.9:g.18428843A>G
• NM_005566.3:c.*15A>G
• NR_028500.2:n.994A>G

This HGVS expression did not pass validation

Protein change:

I249V

Links:

dbSNP: rs200383424

NCBI 1000 Genomes Browser:

rs200383424

Molecular consequence:

• NM_001135239.2:c.*15A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001165414.2:c.*15A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001165416.2:c.*164A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_005566.4:c.*15A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001165415.2:c.745A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_028500.2:n.994A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]