ClinVar

NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)

Genes:

LOC126861339:BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 [Gene]
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 112086941 (on Assembly GRCh38)
• Chr11: 111957665 (on Assembly GRCh37)

Preferred name:

NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)

Other names:

SDHD, GLY12SER (rs34677591)

HGVS:

• NC_000011.10:g.112086941G>A
• NG_012337.3:g.5095G>A
• NG_033145.1:g.4858C>T
• NM_001276503.2:c.34G>A
• NM_001276504.2:c.34G>A
• NM_001276506.2:c.34G>A
• NM_003002.3(SDHD):c.34G>A
• NM_003002.4:c.34G>AMANE SELECT
• NP_001263432.1:p.Gly12Ser
• NP_001263433.1:p.Gly12Ser
• NP_001263435.1:p.Gly12Ser
• NP_002993.1:p.Gly12Ser
• LRG_9t1:c.34G>A
• LRG_9:g.5095G>A
• LRG_9p1:p.Gly12Ser
• NC_000011.9:g.111957665G>A
• NM_001276506.1:c.34G>A
• NM_003002.2:c.34G>A
• NM_003002.3(SDHD):c.34G>A
• NM_003002.3:c.34G>A
• NM_003002.4:c.34G>A
• NR_077060.2:n.69G>A
• O14521:p.Gly12Ser
• p.G12S

This HGVS expression did not pass validation

Protein change:

G12S; GLY12SER

Links:

UniProtKB: O14521#VAR_017870; OMIM: 602690.0011; dbSNP: rs34677591

NCBI 1000 Genomes Browser:

rs34677591

Molecular consequence:

• NM_001276503.2:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276504.2:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276506.2:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003002.4:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_077060.2:n.69G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]