RGD:11345790 Rat Genome Database

Variant: RGD:11345790 - Homo sapiens

RGD ID:

11345790

RS ID:

rs376391115

ClinVar ID:

CV239843

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SDHA

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	251,216
GRCh38	5	251,101

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_012339.1:g.37861G>A NC_000005.10:g.251101G>A NC_000005.9:g.251216G>A NM_004168.2:c.1661G>A More...	07/07/2023	intron variant\|missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	childhood	<1 / 1 000 000	AllHighlyPenetrant; Cancer predisposition; Complex 2 mitochondrial respiratory chain deficiency; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Mitochondrial complex II deficiency; Necrotizing encephalopathy infantile subacute of Leigh; Neoplastic Syndromes, Hereditary; none provided; Paragangliomas 5; PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; Subacute necrotizing encephalopathy; Succinate CoQ reductase deficiency; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

Hereditary Neoplastic Syndromes (IAGP)

Hereditary Paraganglioma-Pheochromocytoma Syndromes (IAGP)

Leigh disease (IAGP)

mitochondrial complex II deficiency (IAGP)

Mitochondrial Complex II Deficiency Nuclear Type 1 (IAGP)

paraganglioma (IAGP)

Paragangliomas 5 (IAGP)

Subacute Necrotizing Encephalopathy of Leigh, Infantile (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SDHA
Accession:	XM_047417467
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	506

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGL SEAGFNTACVTKLFPTRSHTVAAQLENYGMPFSRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRS LRYDTSYFVEYFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQ DLEFVQFHPTGIYGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQL HHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHG ANRLGANSLLDLVVFGRACALSIEESCRPGDKVPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRV GSVLQEGCGKISKLYGDLKHLKTFDQGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSK PIQGQQKKPFEEHWRKHTLSYVDVGTGKCTAREQHITHRKQLCSCDGGLSTRKERTIGARSSLNKSESHYAV*

Gene Symbol:	SDHA
Accession:	NM_001294332
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	506

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGL SEAGFNTACVTKLFPTRSHTVAAQLENYGMPFSRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRS LRYDTSYFVEYFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQ DLEFVQFHPTGIYGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQL HHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHG ANRLGANSLLDLVVFGRACALSIEESCRPGDKVPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRV GSVLQEGCGKISKLYGDLKHLKTFDQGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSK PIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPAIRSY*

Gene Symbol:	SDHA
Accession:	NM_004168
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	554

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGL SEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPF SRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEGGILIN SQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPI PVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKISKLYGDLKHLKTFDQGMVWNT DLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLE YRPVIDKTLNEADCATVPPAIRSY*

Gene Symbol:	SDHA
Accession:	XM_011514072
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	554

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGL SEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPF SRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEGGILIN SQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPI PVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKISKLYGDLKHLKTFDQGMVWNT DLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKCTAR EQHITHRKQLCSCDGGLSTRKERTIGARSSLNKSESHYAV*

Gene Symbol:	SDHA
Accession:	XR_007058614
Location:	EXON;NON-CODING

Gene Symbol:	SDHA
Accession:	NM_001330758
Location:	INTRON

Gene Symbol:	SDHA
Accession:	XM_011514073
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:11423010	PMID:21858060	PMID:22904323	PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000226282	CLINVAR
	RCV000565244	CLINVAR
	RCV000663186	CLINVAR
	RCV001153644	CLINVAR
	RCV001153645	CLINVAR
	RCV001153646	CLINVAR
	RCV002253311	CLINVAR
	RCV002267990	CLINVAR
	RCV003967638	CLINVAR
dbSNP (RS)	rs376391115	CLINVAR
MedGen	C0023264	CLINVAR
	C0027672	CLINVAR
	C1708353	CLINVAR
	C3279992	CLINVAR
	C3661900	CLINVAR
	C5700310	CLINVAR
	CN169374	CLINVAR
NCBI Gene	SDHA	CLINVAR
OMIM	252011	CLINVAR
	256000	CLINVAR
	600857	CLINVAR
	614165	CLINVAR
SNOMED CT	29570005	CLINVAR
	699346009	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:11345790 - Homo sapiens

Imported Disease Annotations - ClinVar