ClinVar

NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 240459 (on Assembly GRCh38)
• Chr5: 240574 (on Assembly GRCh37)

Preferred name:

NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)

Other names:

p.Arg512*

HGVS:

• NC_000005.10:g.240459C>T
• NG_012339.1:g.27219C>T
• NM_001294332.2:c.1390C>T
• NM_001330758.2:c.1534C>T
• NM_004168.4:c.1534C>TMANE SELECT
• NP_001281261.1:p.Arg464Ter
• NP_001317687.1:p.Arg512Ter
• NP_004159.2:p.Arg512Ter
• LRG_315t1:c.1534C>T
• LRG_315:g.27219C>T
• LRG_315p1:p.Arg512Ter
• NC_000005.9:g.240574C>T
• NM_004168.2:c.1534C>T
• NM_004168.3:c.1534C>T

This HGVS expression did not pass validation

Protein change:

R464*

Links:

dbSNP: rs748089700

NCBI 1000 Genomes Browser:

rs748089700

Molecular consequence:

• NM_001294332.2:c.1390C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001330758.2:c.1534C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004168.4:c.1534C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1