ClinVar

NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161340638 (on Assembly GRCh38)
• Chr1: 161310428 (on Assembly GRCh37)

Preferred name:

NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)

HGVS:

• NC_000001.11:g.161340638G>A
• NG_012767.1:g.31263G>A
• NM_001035511.3:c.224G>A
• NM_001035512.3:c.122G>A
• NM_001035513.3:c.65G>A
• NM_001278172.3:c.122G>A
• NM_001407115.1:c.344G>A
• NM_001407116.1:c.167G>A
• NM_001407117.1:c.167G>A
• NM_001407118.1:c.122G>A
• NM_001407119.1:c.113G>A
• NM_001407120.1:c.113G>A
• NM_001407121.1:c.167G>A
• NM_003001.5:c.224G>AMANE SELECT
• NP_001030588.1:p.Gly75Asp
• NP_001030588.1:p.Gly75Asp
• NP_001030589.1:p.Gly41Asp
• NP_001030589.1:p.Gly41Asp
• NP_001030590.1:p.Gly22Asp
• NP_001030590.1:p.Gly22Asp
• NP_001265101.1:p.Gly41Asp
• NP_001265101.1:p.Gly41Asp
• NP_001394044.1:p.Gly115Asp
• NP_001394045.1:p.Gly56Asp
• NP_001394046.1:p.Gly56Asp
• NP_001394047.1:p.Gly41Asp
• NP_001394048.1:p.Gly38Asp
• NP_001394049.1:p.Gly38Asp
• NP_001394050.1:p.Gly56Asp
• NP_002992.1:p.Gly75Asp
• NP_002992.1:p.Gly75Asp
• LRG_317t1:c.224G>A
• LRG_317:g.31263G>A
• LRG_317p1:p.Gly75Asp
• NC_000001.10:g.161310428G>A
• NM_001035511.2:c.224G>A
• NM_001035512.2:c.122G>A
• NM_001035513.2:c.65G>A
• NM_001278172.2:c.122G>A
• NM_003001.3:c.224G>A
• NR_103459.2:n.276G>A
• NR_103459.3:n.276G>A

This HGVS expression did not pass validation

Protein change:

G115D

Links:

dbSNP: rs786205147

NCBI 1000 Genomes Browser:

rs786205147

Molecular consequence:

• NM_001035511.3:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001035512.3:c.122G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001035513.3:c.65G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278172.3:c.122G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407115.1:c.344G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407116.1:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407117.1:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407118.1:c.122G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407119.1:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407120.1:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407121.1:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003001.5:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1