rs1592780438 Rat Genome Database

rs1592780438 Rat Genome Database

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Variant: rs1592780438 - Homo sapiens

RGD ID:

15117557

RS ID:

rs1592780438

ClinVar ID:

CV783870

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SDHD

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	11	111,959,637
GRCh38	11	112,088,913

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001276504.2:c.99C>G NG_033145.1:g.2886G>C NG_012337.3:g.7067C>G NC_000011.10:g.112088913C>G More...	12/13/2023	intron variant	likely benign	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; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Medullary paraganglioma; Neoplastic Syndromes, Hereditary; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV783870	Human	Carney-Stratakis syndrome		IAGP		8554872	ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	ClinVar	PMID:25741868 and PMID:28492532
CV783870	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:25741868 and PMID:28492532
CV783870	Human	Hereditary Paraganglioma-Pheochromocytoma Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	ClinVar	PMID:25741868 and PMID:28492532
CV783870	Human	Islet Cell Tumor Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Chromaffinoma	ClinVar	PMID:25741868 and PMID:28492532
CV783870	Human	paraganglioma		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	ClinVar	PMID:25741868 and PMID:28492532
CV783870	Human	Paragangliomas with Sensorineural Hearing Loss		IAGP		8554872	ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss	ClinVar	PMID:25741868 and PMID:28492532
CV783870	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)
CV783870	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:	V to V (synonymous)
Amino Acid Position:	72

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

Gene Symbol:	SDHD
Accession:	NM_001276504
Location:	EXON
Amino Acid Prediction:	V to V (synonymous)
Amino Acid Position:	33

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

Gene Symbol:	SDHD
Accession:	NM_001276506
Location:	EXON
Amino Acid Prediction:	V to V (synonymous)
Amino Acid Position:	72

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:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002235866	CLINVAR
	RCV004004383	CLINVAR
	RCV004030011	CLINVAR
dbSNP (RS)	rs1592780438	CLINVAR
MedGen	C0027672	CLINVAR
	C1708353	CLINVAR
	C1847319	CLINVAR
NCBI Gene	SDHD	CLINVAR
OMIM	171300	CLINVAR
	602690	CLINVAR
	606864	CLINVAR
SNOMED CT	699346009	CLINVAR