ClinVar

NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 112088939 (on Assembly GRCh38)
• Chr11: 111959663 (on Assembly GRCh37)

Preferred name:

NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)

HGVS:

• NC_000011.10:g.112088939C>T
• NG_012337.3:g.7093C>T
• NG_033145.1:g.2860G>A
• NM_001276503.2:c.169+966C>T
• NM_001276504.2:c.125C>T
• NM_001276506.2:c.242C>T
• NM_003002.4:c.242C>TMANE SELECT
• NP_001263433.1:p.Pro42Leu
• NP_001263435.1:p.Pro81Leu
• NP_002993.1:p.Pro81Leu
• LRG_9t1:c.242C>T
• LRG_9:g.7093C>T
• LRG_9p1:p.Pro81Leu
• NC_000011.9:g.111959663C>T
• NM_001276506.1:c.242C>T
• NM_003002.1:c.242C>T
• NM_003002.2:c.242C>T
• NM_003002.3:c.242C>T
• NR_077060.2:n.277C>T
• O14521:p.Pro81Leu
• p.P81L

This HGVS expression did not pass validation

Protein change:

P42L; PRO81LEU

Links:

UniProtKB: O14521#VAR_010038; OMIM: 602690.0003; dbSNP: rs80338844

NCBI 1000 Genomes Browser:

rs80338844

Molecular consequence:

• NM_001276503.2:c.169+966C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276504.2:c.125C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276506.2:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003002.4:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_077060.2:n.277C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]