ClinVar

NM_004168.4(SDHA):c.1591G>A (p.Val531Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 251031 (on Assembly GRCh38)
• Chr5: 251146 (on Assembly GRCh37)

Preferred name:

NM_004168.4(SDHA):c.1591G>A (p.Val531Met)

HGVS:

• NC_000005.10:g.251031G>A
• NG_012339.1:g.37791G>A
• NM_001294332.2:c.1447G>A
• NM_001330758.2:c.1552-3362G>A
• NM_004168.4:c.1591G>AMANE SELECT
• NP_001281261.1:p.Val483Met
• NP_004159.2:p.Val531Met
• LRG_315t1:c.1591G>A
• LRG_315:g.37791G>A
• LRG_315p1:p.Val531Met
• NC_000005.9:g.251146G>A
• NM_004168.2:c.1591G>A
• NM_004168.3:c.1591G>A

This HGVS expression did not pass validation

Protein change:

V483M

Links:

dbSNP: rs371056571

NCBI 1000 Genomes Browser:

rs371056571

Molecular consequence:

• NM_001330758.2:c.1552-3362G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001294332.2:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004168.4:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]