rs74382477 Rat Genome Database

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RGD ID:

10396552

RS ID:

rs74382477

ClinVar ID:

CV203063

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	89,876,861
GRCh38	15	89,333,630

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000015.10:g.89333630C>T NC_000015.9:g.89876861C>T p.Q52_Q53dup NP_002684.1:p.Arg42Gln More...	01/15/2024	missense variant	likely benign\|uncertain significance	Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers Syndrome; Alpers-Huttenlocher Syndrome; Diffuse cerebral degeneration in infancy; Familial spastic paraparesis; Infantile poliodystrophy; Mitochondrial DNA depletion syndrome 4a; Mitochondrial DNA depletion syndrome 4A (Alpers type); Neuronal degeneration of childhood with liver disease, progressive; none provided; POLG- Related Disorder; POLG-related condition; Poliodystrophia cerebri progressiva; Progressive cerebral poliodystrophy

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	60

Amino Acid Sequence (Calculated using NCBI transcript definition)
LEPKARCSDSQRGGPCTNHEPPALEEGGRRHRRARAGSSSGALGLQLRPRVRPQRRAAAAAAAAAAAAAAATAASAAASA ILGGRAAAAQPIGHPDALERAARANLRARRGDAWRGRGAPQRRAPAEARALGAASRALARRGAAPAAPLRGQPGPALPPP GPEAEPALPGGGQLAVAGPAAPEAPGLGLGGGLDPVRPRGGGRTRGHPRGAGPGVRRGGLLGRGNLPHIGGGHIPLGLVF LVQPAAGGRALLLDQPAVAG*

Gene Symbol:	POLGARF
Accession:	NM_001430120
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	60

Amino Acid Sequence (Calculated using NCBI transcript definition)
LEPKARCSDSQRGGPCTNHEPPALEEGGRRHRRARAGSSSGALGLQLRPRVRPQRRAAAAAAAAAAAAAAATAASAAASA ILGGRAAAAQPIGHPDALERAARANLRARRGDAWRGRGAPQRRAPAEARALGAASRALARRGAAPAAPLRGQPGPALPPP GPEAEPALPGGGQLAVAGPAAPEAPGLGLGGGLDPVRPRGGGRTRGHPRGAGPGVRRGGLLGRGNLPHIGGGHIPLGLVF LVQPAAGGRALLLDQPAVAG*

Gene Symbol:	POLG
Accession:	NM_002693
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	42

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

Gene Symbol:	POLG
Accession:	NM_001126131
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	42

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

Variant Samples

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

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)

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