ClinVar

NM_152783.5(D2HGDH):c.1413C>T (p.Ser471=)

Gene:

D2HGDH:D-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 241767816 (on Assembly GRCh38)
• Chr2: 242707231 (on Assembly GRCh37)

Preferred name:

NM_152783.5(D2HGDH):c.1413C>T (p.Ser471=)

HGVS:

• NC_000002.12:g.241767816C>T
• NG_012012.1:g.38202C>T
• NM_001287249.2:c.1011C>T
• NM_001352824.2:c.852C>T
• NM_152783.5:c.1413C>TMANE SELECT
• NP_001274178.1:p.Ser337=
• NP_001339753.1:p.Ser284=
• NP_689996.4:p.Ser471=
• NC_000002.11:g.242707231C>T
• NM_152783.3:c.1413C>T
• NR_109778.2:n.1284C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs755871797

NCBI 1000 Genomes Browser:

rs755871797

Molecular consequence:

• NR_109778.2:n.1284C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001287249.2:c.1011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352824.2:c.852C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152783.5:c.1413C>T - synonymous variant - [Sequence Ontology: SO:0001819]