rs367610201 Rat Genome Database

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Variant: rs367610201 - Homo sapiens

RGD ID:

10396642

RS ID:

rs367610201

ClinVar ID:

CV203000

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

POLG

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	89,868,822
GRCh38	15	89,325,591

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000015.10:g.89325591A>G NC_000015.9:g.89868822A>G NP_002684.1:p.Met603Thr NG_008218.2:g.14205T>C More...	03/16/2023	missense variant	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	AllHighlyPenetrant; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers Syndrome; Alpers-Huttenlocher Syndrome; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Diffuse cerebral degeneration in infancy; Epilepsy, progressive myoclonic, type 5; Familial spastic paraparesis; Infantile poliodystrophy; Mitochondrial DNA depletion syndrome 4a; Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4b; Mitochondrial DNA depletion syndrome 4B, MNGIE type; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related; MNGIE, POLG-RELATED; Neuronal degeneration of childhood with liver disease, progressive; none provided; Poliodystrophia cerebri progressiva; Progressive cerebral poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Progressive external ophthalmoplegia, autosomal recessive 1; SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Disease Annotations Click to see Annotation Detail View

Alpers-Huttenlocher syndrome (IAGP)

hereditary spastic paraplegia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:
Accession:
Location:	3UTRS;EXON

Gene Symbol:	POLG
Accession:	NM_001126131
Location:	EXON
Amino Acid Prediction:	M to T (nonsynonymous)
Amino Acid Position:	603

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLS RGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQA QLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLS PADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKH KVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDV WATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYK EDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLP KRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLTALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTL ESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALT ARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISF WRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQA PPGYTLVGADVDSQELWIAAVLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQP FAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKK WEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLF EEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP SNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP*

Gene Symbol:	POLG
Accession:	NM_002693
Location:	EXON
Amino Acid Prediction:	M to T (nonsynonymous)
Amino Acid Position:	603

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLS RGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQA QLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLS PADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKH KVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDV WATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYK EDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLP KRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLTALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTL ESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALT ARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISF WRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQA PPGYTLVGADVDSQELWIAAVLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQP FAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKK WEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLF EEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP SNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:26467025	PMID:28492532	PMID:29655203

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000188667	CLINVAR
	RCV001348402	CLINVAR
	RCV001814096	CLINVAR
	RCV001847837	CLINVAR
	RCV003226244	CLINVAR
dbSNP (RS)	rs367610201	CLINVAR
MedGen	C0037773	CLINVAR
	C0205710	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	POLG	CLINVAR
OMIM	174763	CLINVAR
	203700	CLINVAR
	258450	CLINVAR
	607459	CLINVAR
	613662	CLINVAR
SNOMED CT	20415001	CLINVAR
	39912006	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: rs367610201 - Homo sapiens

Imported Disease Annotations - ClinVar