ClinVar

NM_005566.4(LDHA):c.882T>C (p.Ile294=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 18407164 (on Assembly GRCh38)
• Chr11: 18428711 (on Assembly GRCh37)

Preferred name:

NM_005566.4(LDHA):c.882T>C (p.Ile294=)

HGVS:

• NC_000011.10:g.18407164T>C
• NG_008185.1:g.17730T>C
• NM_001135239.2:c.708T>C
• NM_001165414.2:c.969T>C
• NM_001165415.2:c.688-75T>C
• NM_001165416.2:c.*32T>C
• NM_005566.4:c.882T>CMANE SELECT
• NP_001128711.1:p.Ile236=
• NP_001158886.1:p.Ile323=
• NP_005557.1:p.Ile294=
• NC_000011.9:g.18428711T>C
• NR_028500.2:n.862T>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001165416.2:c.*32T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001165415.2:c.688-75T>C - intron variant - [Sequence Ontology: SO:0001627]
• NR_028500.2:n.862T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001135239.2:c.708T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001165414.2:c.969T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005566.4:c.882T>C - synonymous variant - [Sequence Ontology: SO:0001819]