ClinVar

NM_004168.4(SDHA):c.1932G>A (p.Val644=)

Gene:

SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 256357 (on Assembly GRCh38)
• Chr5: 256472 (on Assembly GRCh37)

Preferred name:

NM_004168.4(SDHA):c.1932G>A (p.Val644=)

HGVS:

• NC_000005.10:g.256357G>A
• NG_012339.1:g.43117G>A
• NM_001294332.1:c.1788G>A
• NM_001330758.1:c.1689G>A
• NM_004168.4:c.1932G>A
• NP_001281261.1:p.Val596=
• NP_001317687.1:p.Val563=
• NP_004159.2:p.Val644=
• NC_000005.9:g.256472G>A
• NM_004168.2:c.1932G>A
• NM_004168.3:c.1932G>A
• p.V644V
• p.Val644Val

This HGVS expression did not pass validation

Links:

dbSNP: rs6961

NCBI 1000 Genomes Browser:

rs6961

Molecular consequence:

• NM_001294332.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330758.1:c.1689G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004168.4:c.1932G>A - synonymous variant - [Sequence Ontology: SO:0001819]