ClinVar

NM_003002.4(SDHD):c.298_301del (p.Thr100fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 112088992 - 112088995 (on Assembly GRCh38)
• Chr11: 111959716 - 111959719 (on Assembly GRCh37)

Preferred name:

NM_003002.4(SDHD):c.298_301del (p.Thr100fs)

HGVS:

• NC_000011.10:g.112088995_112088998del
• NG_012337.3:g.7149_7152del
• NG_033145.1:g.2804_2807del
• NM_001276503.2:c.169+1022_169+1025del
• NM_001276504.2:c.181_184del
• NM_001276506.2:c.298_301del
• NM_003002.4:c.298_301delMANE SELECT
• NP_001263433.1:p.Thr61fs
• NP_001263435.1:p.Thr100fs
• NP_002993.1:p.Thr100fs
• LRG_9t1:c.298_301del
• LRG_9:g.7149_7152del
• LRG_9p1:p.Thr100fs
• NC_000011.9:g.111959716_111959719del
• NC_000011.9:g.111959719_111959722del
• NM_003002.2:c.298_301delACTC
• NR_077060.2:n.333_336del
• p.T100FFS*34

This HGVS expression did not pass validation

Protein change:

T100fs

Links:

dbSNP: rs786203067

NCBI 1000 Genomes Browser:

rs786203067

Molecular consequence:

• NM_001276504.2:c.181_184del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001276506.2:c.298_301del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_003002.4:c.298_301del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001276503.2:c.169+1022_169+1025del - intron variant - [Sequence Ontology: SO:0001627]
• NR_077060.2:n.333_336del - non-coding transcript variant - [Sequence Ontology: SO:0001619]