rs1567650859 Rat Genome Database

rs1567650859 Rat Genome Database

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Variant: rs1567650859 - Homo sapiens

RGD ID:

14696644

RS ID:

rs1567650859

ClinVar ID:

CV622961

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127885554 SLC25A11

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	17	4,841,471
GRCh38	17	4,938,176

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000017.11:g.4938176G>T NC_000017.10:g.4841471G>T NP_001158890.1:p.Pro188Thr NP_001158889.1:p.Pro228Thr More...	10/17/2023	missense variant	pathogenic	PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 6

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV622961	Human	Paragangliomas 6		IAGP		8554872	ClinVar Annotator: match by term: PARAGANGLIOMAS 6	ClinVar	PMID:29431636

Gene Symbol:	SLC25A11
Accession:	NM_001165418
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	188

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATASAGAGGIDGKPRTSPKSVKFLFGGLAGLSAGLLRQATYTTTRLGIYTVLFERLTGADGTPPGFLLKAVIGMTAGA TGAFVGTPAEVALIRMTADGRLPADQRRGYKNVFNALIRITREEGVLTLWRGCIPTMARAVVVNAAQLASYSQSKQFLLD SGYFSDNILCHFCASMISGLVTTAASMTVDIAKTRIQNMRMIDGKPEYKNGLDVLFKVVRYEGFFSLWKGFTPYYARLGP HTVLTFIFLEQMNKAYKRLFLSG*

Gene Symbol:	SLC25A11
Accession:	NM_003562
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	239

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATASAGAGGIDGKPRTSPKSVKFLFGGLAGMGATVFVQPLDLVKNRMQLSGEGAKTREYKTSFHALTSILKAEGLRGI YTGLSAGLLRQATYTTTRLGIYTVLFERLTGADGTPPGFLLKAVIGMTAGATGAFVGTPAEVALIRMTADGRLPADQRRG YKNVFNALIRITREEGVLTLWRGCIPTMARAVVVNAAQLASYSQSKQFLLDSGYFSDNILCHFCASMISGLVTTAASMTV DIAKTRIQNMRMIDGKPEYKNGLDVLFKVVRYEGFFSLWKGFTPYYARLGPHTVLTFIFLEQMNKAYKRLFLSG*

Gene Symbol:	SLC25A11
Accession:	NM_001165417
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	228

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATASAGAGGIDGKPRTSPKMGATVFVQPLDLVKNRMQLSGEGAKTREYKTSFHALTSILKAEGLRGIYTGLSAGLLRQ ATYTTTRLGIYTVLFERLTGADGTPPGFLLKAVIGMTAGATGAFVGTPAEVALIRMTADGRLPADQRRGYKNVFNALIRI TREEGVLTLWRGCIPTMARAVVVNAAQLASYSQSKQFLLDSGYFSDNILCHFCASMISGLVTTAASMTVDIAKTRIQNMR MIDGKPEYKNGLDVLFKVVRYEGFFSLWKGFTPYYARLGPHTVLTFIFLEQMNKAYKRLFLSG*

ClinVar GRCh37	ClinVar GRCh38

PMID:29431636

Database	Acc Id	Source(s)
ClinVar	RCV000785991	CLINVAR
dbSNP (RS)	rs1567650859	CLINVAR
MedGen	C5193112	CLINVAR
NCBI Gene	SLC25A11	CLINVAR
OMIM	604165	CLINVAR
	618464	CLINVAR
OMIM Allele	604165.0001	CLINVAR