rs199869408 Rat Genome Database

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Variant: rs199869408 - Homo sapiens

RGD ID:

11346454

RS ID:

rs199869408

ClinVar ID:

CV241049

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SDHD

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	111,965,549
GRCh38	11	112,094,825

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NR_077060.2:n.424C>T NG_012337.3:g.12979C>T NC_000011.10:g.112094825C>T NC_000011.9:g.111965549C>T More...	03/28/2024	3 prime utr variant\|missense variant	uncertain significance	adolescent	<1 / 1 000 000	AllHighlyPenetrant; Cancer predisposition; Carney dyad; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Complex 2 mitochondrial respiratory chain deficiency; Cowden syndrome 3; Glomus tumors familial 1; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Medullary paraganglioma; Mitochondrial complex II deficiency; MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1; MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; Neoplastic Syndromes, Hereditary; none provided; Paraganglioma - glomus jugulare; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; Paragangliomas 1; Paragangliomas familial 1; Paragangliomas with sensorineural hearing loss; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; Paragangliomata; PGL 1; Pheochromocytoma; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Succinate CoQ reductase deficiency; Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV241049	Human	Carney-Stratakis syndrome		IAGP		8554872	ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	ClinVar	PMID:16061558 more ...
CV241049	Human	Glomus Jugulare Tumor		IAGP		8554872	ClinVar Annotator: match by term: Glomus tumors familial 1	ClinVar	PMID:16061558 more ...
CV241049	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:16061558 more ...
CV241049	Human	Hereditary Paraganglioma-Pheochromocytoma Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	ClinVar	PMID:16061558 more ...
CV241049	Human	Islet Cell Tumor Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Chromaffinoma	ClinVar	PMID:16061558 more ...
CV241049	Human	mitochondrial complex II deficiency		IAGP		8554872	ClinVar Annotator: match by term: Succinate CoQ reductase deficiency	ClinVar	PMID:16061558 more ...
CV241049	Human	Mitochondrial Complex II Deficiency Nuclear Type 1		IAGP		8554872	ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY and NUCLEAR TYPE 1	ClinVar	PMID:16061558 more ...
CV241049	Human	Mitochondrial Complex II Deficiency Nuclear Type 3		IAGP		8554872	ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY and NUCLEAR TYPE 3	ClinVar	PMID:16061558 more ...
CV241049	Human	paraganglioma		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	ClinVar	PMID:16061558 more ...
CV241049	Human	Paragangliomas 1		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas familial 1	ClinVar	PMID:16061558 more ...
CV241049	Human	Paragangliomas with Sensorineural Hearing Loss		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss	ClinVar	PMID:16061558 more ...
CV241049	Human	pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:16061558 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV241049	Human	Pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:16061558 more ...

Gene Symbol:	SDHD
Accession:	NM_001276506
Location:	3UTRS;EXON

Gene Symbol:	SDHD
Accession:	NM_001276503
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHWALDKLLLTMFMGMPCRKLPRQGF WHFQL*

Gene Symbol:	SDHD
Accession:	NM_003002
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	112

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL PAAYLNPCSAMDYSLAAALTLHGHWGLGQVVIDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:	SDHD
Accession:	NM_001276504
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRAGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVIDYVHGDA LQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:	SDHD
Accession:	NR_077060
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:16061558	PMID:17102085	PMID:23175444	PMID:24033266	PMID:25741868	PMID:26467025	PMID:28492532	PMID:28975465	PMID:30093976	PMID:31666924

Database	Acc Id	Source(s)
ClinVar	RCV000455598	CLINVAR
	RCV000760070	CLINVAR
	RCV000764954	CLINVAR
	RCV001020081	CLINVAR
	RCV002229661	CLINVAR
	RCV003998866	CLINVAR
	RCV004567730	CLINVAR
dbSNP (RS)	rs199869408	CLINVAR
MedGen	C0027672	CLINVAR
	C1708353	CLINVAR
	C1847319	CLINVAR
	C3661900	CLINVAR
	C5436934	CLINVAR
	CN169374	CLINVAR
NCBI Gene	SDHD	CLINVAR
OMIM	168000	CLINVAR
	171300	CLINVAR
	252011	CLINVAR
	602690	CLINVAR
	606864	CLINVAR
	619167	CLINVAR
SNOMED CT	699346009	CLINVAR

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


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Variant: rs199869408 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs199869408 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar