rs9919552 Rat Genome Database

rs9919552 Rat Genome Database

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Variant: rs9919552 - Homo sapiens

RGD ID:

8607491

RS ID:

rs9919552

ClinVar ID:

CV53817

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SDHD

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	111,959,625
GRCh38	11	112,088,901

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000011.10:g.112088901C>T NC_000011.9:g.111959625C>T NM_003002.2:c.204C>T NP_002993.1:p.Ser68= More...	08/15/2023	intron\|intron variant\|non-coding transcript variant\|synonymous variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	adolescent\|childhood	1-9 / 1 000 000\|<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; Cowden syndrome 3; Glomus tumors familial 1; Glomus tumors, familial, 3; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Medullary paraganglioma; 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 familial 1; Paragangliomas with sensorineural hearing loss; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; Paragangliomata; PGL 1; Pheochromocytoma; PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3); Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV53817	Human	Carney-Stratakis syndrome		IAGP		8554872	ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma	ClinVar	PMID:24033266 more ...
CV53817	Human	Glomus Jugulare Tumor		IAGP		8554872	ClinVar Annotator: match by term: Glomus tumors familial 1	ClinVar	PMID:24033266 more ...
CV53817	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:24033266 more ...
CV53817	Human	Islet Cell Tumor Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Chromaffinoma	ClinVar	PMID:24033266 more ...
CV53817	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:24033266 more ...
CV53817	Human	paraganglioma		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomata	ClinVar	PMID:24033266 more ...
CV53817	Human	Paragangliomas 1		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas 1	ClinVar	PMID:24033266 more ...
CV53817	Human	Paragangliomas 3		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas 3	ClinVar	PMID:24033266 more ...
CV53817	Human	Paragangliomas with Sensorineural Hearing Loss		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss	ClinVar	PMID:24033266 more ...
CV53817	Human	pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:24033266 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV53817	Human	Pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:24033266 more ...

Gene Symbol:	SDHD
Accession:	NM_003002
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	68

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

Gene Symbol:	SDHD
Accession:	NM_001276504
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	29

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

Gene Symbol:	SDHD
Accession:	NM_001276506
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	68

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

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

Gene Symbol:	SDHD
Accession:	NM_001276503
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:24033266	PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000037727	CLINVAR
	RCV000162450	CLINVAR
	RCV000265027	CLINVAR
	RCV000587940	CLINVAR
	RCV001807014	CLINVAR
	RCV001807015	CLINVAR
	RCV002228123	CLINVAR
	RCV003315556	CLINVAR
dbSNP (RS)	rs9919552	CLINVAR
MedGen	C0027672	CLINVAR
	C0031511	CLINVAR
	C1847319	CLINVAR
	C1854336	CLINVAR
	C3494181	CLINVAR
	C3661900	CLINVAR
	C5436934	CLINVAR
	CN169374	CLINVAR
NCBI Gene	SDHD	CLINVAR
OMIM	168000	CLINVAR
	171300	CLINVAR
	602690	CLINVAR
	605373	CLINVAR
	606864	CLINVAR
	619167	CLINVAR
SNOMED CT	699346009	CLINVAR