rs34677591 Rat Genome Database

rs34677591 Rat Genome Database

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Variant: rs34677591 - Homo sapiens

RGD ID:

8559616

RS ID:

rs34677591

ClinVar ID:

CV21934

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC126861339 SDHD

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	11	111,957,665
GRCh38	11	112,086,941

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.112086941G>A NC_000011.9:g.111957665G>A NM_003002.2:c.34G>A NP_002993.1:p.Gly12Ser More...	07/01/2024	2kb upstream variant\|missense\|missense variant\|non-coding transcript variant	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	adolescent\|all ages\|childhood\|variable	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; 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; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV21934	Human	Carney-Stratakis syndrome		IAGP		8554872	ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma	ClinVar	PMID:10657297 more ...
CV21934	Human	Glomus Jugulare Tumor		IAGP		8554872	ClinVar Annotator: match by term: Glomus tumors familial 1	ClinVar	PMID:10657297 more ...
CV21934	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:10657297 more ...
CV21934	Human	Islet Cell Tumor Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Chromaffinoma	ClinVar	PMID:10657297 more ...
CV21934	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:10657297 more ...
CV21934	Human	paraganglioma		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomata	ClinVar	PMID:10657297 more ...
CV21934	Human	Paragangliomas 1		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas 1	ClinVar	PMID:10657297 more ...
CV21934	Human	Paragangliomas with Sensorineural Hearing Loss		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss	ClinVar	PMID:10657297 more ...
CV21934	Human	pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:10657297 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV21934	Human	Pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:10657297 more ...

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

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

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

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

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

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

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

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:10657297	PMID:11156372	PMID:11526495	PMID:12007193	PMID:12111639	PMID:12386824	PMID:15032977	PMID:18678321	PMID:21565294	PMID:21979946	PMID:22584711	PMID:22703879
PMID:23175444	PMID:23666964	PMID:24033266	PMID:24728327	PMID:24886695	PMID:25149476	PMID:25741868	PMID:26467025	PMID:27153395	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000007299	CLINVAR
	RCV000007300	CLINVAR
	RCV000007302	CLINVAR
	RCV000034697	CLINVAR
	RCV000122006	CLINVAR
	RCV000162470	CLINVAR
	RCV000988742	CLINVAR
	RCV001807000	CLINVAR
	RCV002228001	CLINVAR
dbSNP (RS)	rs34677591	CLINVAR
MedGen	C0027672	CLINVAR
	C0031511	CLINVAR
	C1847319	CLINVAR
	C3494181	CLINVAR
	C3661900	CLINVAR
	C5436934	CLINVAR
	CN166604	CLINVAR
	CN169374	CLINVAR
NCBI Gene	LOC126861339	CLINVAR
	SDHD	CLINVAR
OMIM	168000	CLINVAR
	171300	CLINVAR
	602690	CLINVAR
	606864	CLINVAR
	619167	CLINVAR
OMIM Allele	602690.0011	CLINVAR
SNOMED CT	699346009	CLINVAR