ClinVar

NM_003002.4(SDHD):c.354T>G (p.Asp118Glu)

Gene:

SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 112094844 (on Assembly GRCh38)
• Chr11: 111965568 (on Assembly GRCh37)

Preferred name:

NM_003002.4(SDHD):c.354T>G (p.Asp118Glu)

HGVS:

• NC_000011.10:g.112094844T>G
• NG_012337.3:g.12998T>G
• NM_001276503.2:c.209T>G
• NM_001276504.2:c.237T>G
• NM_001276506.2:c.*52T>G
• NM_003002.4:c.354T>GMANE SELECT
• NP_001263432.1:p.Met70Arg
• NP_001263433.1:p.Asp79Glu
• NP_002993.1:p.Asp118Glu
• LRG_9t1:c.354T>G
• LRG_9:g.12998T>G
• LRG_9p1:p.Asp118Glu
• NC_000011.9:g.111965568T>G
• NM_003002.2:c.354T>G
• NM_003002.3:c.354T>G
• NR_077060.2:n.443T>G

This HGVS expression did not pass validation

Protein change:

D118E

Links:

dbSNP: rs911663426

NCBI 1000 Genomes Browser:

rs911663426

Molecular consequence:

• NM_001276506.2:c.*52T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001276503.2:c.209T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276504.2:c.237T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003002.4:c.354T>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_077060.2:n.443T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]