RGD:152153354 Rat Genome Database

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Variant: RGD:152153354 -  Homo sapiens

RGD ID: 152153354
RS ID: rs941120370
ClinVar ID: CV1545355
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCI  POLG  POLGARF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 89,860,011
GRCh38 15 89,316,780
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001113378.2:c.*321A>G
NM_001376910.1:c.*321A>G
NM_001376911.1:c.*321A>G
NM_018193.3:c.*321A>G
More... 		06/19/2021 3 prime utr variant likely benign 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; Infantile poliodystrophy; Mitochondrial DNA depletion syndrome 4a; Mitochondrial DNA depletion syndrome 4A (Alpers type); Neuronal degeneration of childhood with liver disease, progressive; Poliodystrophia cerebri progressiva; Progressive cerebral poliodystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCI
Accession:XM_047432808
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432832
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432817
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432823
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:NM_001376910
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432796
Location:3UTRS;EXON

Gene Symbol:POLGARF
Accession:NM_001406557
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_011521764
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432815
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432805
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432816
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:NM_018193
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432798
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432812
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432801
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432800
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432793
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432824
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432822
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432797
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432833
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432794
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432820
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:NM_001113378
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_011521756
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432828
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432809
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432811
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432799
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432813
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:NM_001376911
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432795
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432802
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432818
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432804
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432821
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432807
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432814
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432810
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432803
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432806
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432829
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432819
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432792
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432791
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432789
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432827
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432830
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432825
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432826
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432790
Location:3UTRS;EXON

Gene Symbol:FANCI
Accession:XM_047432831
Location:3UTRS;EXON

Gene Symbol:POLG
Accession:NM_002693
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 1231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLS
RGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQA
QLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLS
PADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKH
KVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDV
WATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYK
EDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLP
KRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTL
ESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALT
ARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISF
WRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQA
PPGYTLVGADVDSQELWIAAVLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQP
FAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKK
WEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLF
EEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP
SNPTGMERRYGIPQGEALDIYQIIELTKGSVEKRSQPGP*

Gene Symbol:POLG
Accession:NM_001126131
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 1231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLS
RGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQA
QLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLS
PADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKH
KVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDV
WATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYK
EDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLP
KRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTL
ESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALT
ARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISF
WRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQA
PPGYTLVGADVDSQELWIAAVLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQP
FAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKK
WEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLF
EEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP
SNPTGMERRYGIPQGEALDIYQIIELTKGSVEKRSQPGP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002139853 CLINVAR
dbSNP (RS) rs941120370 CLINVAR
MedGen C0205710 CLINVAR
NCBI Gene FANCI CLINVAR
  POLG CLINVAR
  POLGARF CLINVAR
OMIM 174763 CLINVAR
  203700 CLINVAR
  611360 CLINVAR
SNOMED CT 20415001 CLINVAR