rs1401695686 Rat Genome Database

rs1401695686 Rat Genome Database

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Variant: rs1401695686 - Homo sapiens

RGD ID:

13486731

RS ID:

rs1401695686

ClinVar ID:

CV461681

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SDHD

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	111,965,627
GRCh38	11	112,094,903

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View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_012337.3:g.13057G>T NC_000011.10:g.112094903G>T NC_000011.9:g.111965627G>T NP_002993.1:p.Gly138Val More...	06/08/2023	3 prime utr variant\|missense variant	likely pathogenic\|uncertain significance	Carney dyad; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Cowden syndrome 3; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Medullary paraganglioma; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; Paragangliomas with sensorineural hearing loss; Pheochromocytoma

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV461681	Human	Carney-Stratakis syndrome		IAGP		8554872	ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	ClinVar	PMID:25741868 more ...
CV461681	Human	Hereditary Paraganglioma-Pheochromocytoma Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	ClinVar	PMID:25741868 more ...
CV461681	Human	Islet Cell Tumor Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Chromaffinoma	ClinVar	PMID:25741868 more ...
CV461681	Human	paraganglioma		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	ClinVar	PMID:25741868 more ...
CV461681	Human	Paragangliomas with Sensorineural Hearing Loss		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss	ClinVar	PMID:25741868 more ...
CV461681	Human	pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:25741868 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV461681	Human	Pheochromocytoma		IAGP		8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:25741868 more ...

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

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

Gene Symbol:	SDHD
Accession:	NM_001276504
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	99

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

Gene Symbol:	SDHD
Accession:	NM_003002
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	138

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532	PMID:29875428	PMID:31492822

Database	Acc Id	Source(s)
ClinVar	RCV002526127	CLINVAR
	RCV003999154	CLINVAR
dbSNP (RS)	rs1401695686	CLINVAR
MedGen	C1708353	CLINVAR
	C1847319	CLINVAR
NCBI Gene	SDHD	CLINVAR
OMIM	171300	CLINVAR
	602690	CLINVAR
	606864	CLINVAR