ClinVar

NM_003002.4(SDHD):c.405C>A (p.Thr135=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 112094895 (on Assembly GRCh38)
• Chr11: 111965619 (on Assembly GRCh37)

Preferred name:

NM_003002.4(SDHD):c.405C>A (p.Thr135=)

HGVS:

• NC_000011.10:g.112094895C>A
• NG_012337.3:g.13049C>A
• NM_001276503.2:c.*2C>A
• NM_001276504.2:c.288C>A
• NM_001276506.2:c.*103C>A
• NM_003002.2:c.405C>A
• NM_003002.4:c.405C>AMANE SELECT
• NP_001263433.1:p.Thr96=
• NP_002993.1:p.Thr135=
• LRG_9t1:c.405C>A
• LRG_9:g.13049C>A
• LRG_9p1:p.Thr135=
• NC_000011.9:g.111965619C>A
• NM_003002.3:c.405C>A
• NR_077060.2:n.494C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1555187606

NCBI 1000 Genomes Browser:

rs1555187606

Molecular consequence:

• NM_001276503.2:c.*2C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001276506.2:c.*103C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_077060.2:n.494C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001276504.2:c.288C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003002.4:c.405C>A - synonymous variant - [Sequence Ontology: SO:0001819]