rs764384503 Rat Genome Database

rs764384503 Rat Genome Database

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Variant: rs764384503 - Homo sapiens

RGD ID:

13485194

RS ID:

rs764384503

ClinVar ID:

CV461662

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC126861339 SDHD

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	11	111,957,666
GRCh38	11	112,086,942

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001276506.2:c.35G>A NG_012337.3:g.5096G>A NC_000011.10:g.112086942G>A NC_000011.9:g.111957666G>A More...	12/20/2023	missense variant	uncertain significance	Cancer predisposition; Carney dyad; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Cowden syndrome 3; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Medullary paraganglioma; MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; Neoplastic Syndromes, Hereditary; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; Paragangliomas with sensorineural hearing loss; Pheochromocytoma; SDHD-related condition; Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV461662	Human	Carney-Stratakis syndrome		IAGP		8554872	ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	ClinVar	PMID:25741868 and PMID:28492532
CV461662	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Cancer Syndrome	ClinVar	PMID:25741868 and PMID:28492532
CV461662	Human	Islet Cell Tumor Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Chromaffinoma	ClinVar	PMID:25741868 and PMID:28492532
CV461662	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:25741868 and PMID:28492532
CV461662	Human	Paragangliomas with Sensorineural Hearing Loss		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss	ClinVar	PMID:25741868 and PMID:28492532
CV461662	Human	pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:25741868 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV461662	Human	Pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	SDHD
Accession:	NM_003002
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	12

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

Gene Symbol:	SDHD
Accession:	NM_001276503
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	12

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

Gene Symbol:	SDHD
Accession:	NM_001276506
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	12

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

Gene Symbol:	SDHD
Accession:	NM_001276504
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	12

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002528396	CLINVAR
	RCV003476278	CLINVAR
	RCV003900170	CLINVAR
	RCV004023999	CLINVAR
dbSNP (RS)	rs764384503	CLINVAR
MedGen	C0027672	CLINVAR
	C1847319	CLINVAR
	C5436934	CLINVAR
NCBI Gene	LOC126861339	CLINVAR
	SDHD	CLINVAR
OMIM	171300	CLINVAR
	602690	CLINVAR
	606864	CLINVAR
	619167	CLINVAR
SNOMED CT	699346009	CLINVAR