ClinVar

NM_003001.5(SDHC):c.211C>T (p.His71Tyr)

Gene:

SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161340625 (on Assembly GRCh38)
• Chr1: 161310415 (on Assembly GRCh37)

Preferred name:

NM_003001.5(SDHC):c.211C>T (p.His71Tyr)

HGVS:

• NC_000001.11:g.161340625C>T
• NG_012767.1:g.31250C>T
• NM_001035511.3:c.211C>T
• NM_001035512.3:c.109C>T
• NM_001035513.3:c.52C>T
• NM_001278172.3:c.109C>T
• NM_001407115.1:c.331C>T
• NM_001407116.1:c.154C>T
• NM_001407117.1:c.154C>T
• NM_001407118.1:c.109C>T
• NM_001407119.1:c.100C>T
• NM_001407120.1:c.100C>T
• NM_001407121.1:c.154C>T
• NM_003001.5:c.211C>TMANE SELECT
• NP_001030588.1:p.His71Tyr
• NP_001030588.1:p.His71Tyr
• NP_001030589.1:p.His37Tyr
• NP_001030589.1:p.His37Tyr
• NP_001030590.1:p.His18Tyr
• NP_001030590.1:p.His18Tyr
• NP_001265101.1:p.His37Tyr
• NP_001265101.1:p.His37Tyr
• NP_001394044.1:p.His111Tyr
• NP_001394045.1:p.His52Tyr
• NP_001394046.1:p.His52Tyr
• NP_001394047.1:p.His37Tyr
• NP_001394048.1:p.His34Tyr
• NP_001394049.1:p.His34Tyr
• NP_001394050.1:p.His52Tyr
• NP_002992.1:p.His71Tyr
• NP_002992.1:p.His71Tyr
• LRG_317t1:c.211C>T
• LRG_317:g.31250C>T
• LRG_317p1:p.His71Tyr
• NC_000001.10:g.161310415C>T
• NM_001035511.2:c.211C>T
• NM_001035512.2:c.109C>T
• NM_001035513.2:c.52C>T
• NM_001278172.2:c.109C>T
• NM_003001.3:c.211C>T
• NR_103459.2:n.263C>T
• NR_103459.3:n.263C>T

This HGVS expression did not pass validation

Protein change:

H111Y

Molecular consequence:

• NM_001035511.3:c.211C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001035512.3:c.109C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001035513.3:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278172.3:c.109C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407115.1:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407116.1:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407117.1:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407118.1:c.109C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407119.1:c.100C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407120.1:c.100C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407121.1:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003001.5:c.211C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1