ClinVar

NM_004168.4(SDHA):c.421T>C (p.Tyr141His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 225527 (on Assembly GRCh38)
• Chr5: 225642 (on Assembly GRCh37)

Preferred name:

NM_004168.4(SDHA):c.421T>C (p.Tyr141His)

HGVS:

• NC_000005.10:g.225527T>C
• NG_012339.1:g.12287T>C
• NM_001294332.2:c.313-356T>C
• NM_001330758.2:c.421T>C
• NM_004168.4:c.421T>CMANE SELECT
• NP_001317687.1:p.Tyr141His
• NP_004159.2:p.Tyr141His
• LRG_315t1:c.421T>C
• LRG_315:g.12287T>C
• LRG_315p1:p.Tyr141His
• NC_000005.9:g.225642T>C
• NM_004168.2:c.421T>C
• NM_004168.3:c.421T>C

This HGVS expression did not pass validation

Protein change:

Y141H

Links:

dbSNP: rs1553997643

NCBI 1000 Genomes Browser:

rs1553997643

Molecular consequence:

• NM_001294332.2:c.313-356T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330758.2:c.421T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004168.4:c.421T>C - missense variant - [Sequence Ontology: SO:0001583]