rs770909248 Rat Genome Database

rs770909248 Rat Genome Database

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Variant: rs770909248 - Homo sapiens

RGD ID:

13492251

RS ID:

rs770909248

ClinVar ID:

CV475955

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SDHD

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	11	111,965,642
GRCh38	11	112,094,918

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001276506.2:c.126A>G NM_001276503.2:c.25A>G NM_001276504.2:c.311A>G NM_003002.4:c.428A>G More...	03/05/2024	3 prime utr variant\|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; none provided; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; Paragangliomas with sensorineural hearing loss; Pheochromocytoma; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV475955	Human	Carney-Stratakis syndrome		IAGP		8554872	ClinVar Annotator: match by term: Carney-Stratakis syndrome	ClinVar	PMID:25741868 and PMID:28492532
CV475955	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:25741868 and PMID:28492532
CV475955	Human	Islet Cell Tumor Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Chromaffinoma	ClinVar	PMID:25741868 and PMID:28492532
CV475955	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
CV475955	Human	Paragangliomas with Sensorineural Hearing Loss		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss	ClinVar	PMID:25741868 and PMID:28492532
CV475955	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)
CV475955	Human	Pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:25741868 and PMID:28492532

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

Gene Symbol:	SDHD
Accession:	NM_001276503
Location:	3UTRS;EXON

Gene Symbol:	SDHD
Accession:	NM_003002
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	143

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

Gene Symbol:	SDHD
Accession:	NM_001276504
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	104

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000570463	CLINVAR
	RCV002223876	CLINVAR
	RCV002232449	CLINVAR
	RCV004568218	CLINVAR
dbSNP (RS)	rs770909248	CLINVAR
MedGen	C0027672	CLINVAR
	C1847319	CLINVAR
	C3661900	CLINVAR
	C5436934	CLINVAR
NCBI Gene	SDHD	CLINVAR
OMIM	171300	CLINVAR
	602690	CLINVAR
	606864	CLINVAR
	619167	CLINVAR
SNOMED CT	699346009	CLINVAR