RGD:11600152 Rat Genome Database

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Variant: RGD:11600152 -  Homo sapiens

RGD ID: 11600152
RS ID: rs757317844
ClinVar ID: CV307115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A13  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 95,750,586
GRCh38 7 96,121,274
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_014251.2:c.1945G>C
NC_000007.14:g.96121274C>G
NC_000007.13:g.95750586C>G
NP_055066.1:p.Gly649Arg
More...
01/17/2020 missense variant uncertain significance all ages 1-9 / 100 000 argininosuccinate synthetase deficiency; ASS deficiency; Citrullinemia 1; Citrullinemia type 2; Classic citrullinemia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A13
Accession:NM_014251
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 649
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGESQPNPKTVELLSGVVDQTKDGLISFQEFVA
FESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQVFGQTTIHQHIPFNWDSEFVQLHFGKERKRHLTYAEFTQFLLEIQL
EHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFSYFNGFNSLLNNMELIRKIYSTL
AGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLADLYEPRGRMTLADIERIAPLEEGTLPFNLAEAQRQKASGDSARP
VLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKTRMQNQRSTGSFVGELMYKNSFDCFKKVLRYEGFFGLYRGLLPQLLG
VAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALSVVRDLGFF
GIYKGAKACFLRDIPFSAIYFPCYAHVKASFANEDGQVSPGSLLLAGAIAGMPAASLVTPADVIKTRLQVAARAGQTTYS
GVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTYELLQRWFYIDFGGVKPMGSEPVPKSRINLPAPNPDHVGGY
KLAVATFARIENKFGLYLPLFKPSVSTSKAIGGGP*

Gene Symbol:SLC25A13
Accession:NM_001160210
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 650
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGESQPNPKTVELLSGVVDQTKDGLISFQEFVA
FESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQVFGQTTIHQHIPFNWDSEFVQLHFGKERKRHLTYAEFTQFLLEIQL
EHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFSYFNGFNSLLNNMELIRKIYSTL
AGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLADLYEPRGRMTLADIERIAPLEEGTLPFNLAEAQRQQKASGDSAR
PVLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKTRMQNQRSTGSFVGELMYKNSFDCFKKVLRYEGFFGLYRGLLPQLL
GVAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALSVVRDLGF
FGIYKGAKACFLRDIPFSAIYFPCYAHVKASFANEDGQVSPGSLLLAGAIAGMPAASLVTPADVIKTRLQVAARAGQTTY
SGVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTYELLQRWFYIDFGGVKPMGSEPVPKSRINLPAPNPDHVGG
YKLAVATFARIENKFGLYLPLFKPSVSTSKAIGGGP*

Gene Symbol:SLC25A13
Accession:XM_017011663
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 695
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAREASQSWWKANEKQILVLYCDRQESLCRGTPIYKTIGSSETYGETAPMIQLSPPGPALDTWGLLQFKYASIEKNGEFF
MSPNDFVTRYLNIFGESQPNPKTVELLSGVVDQTKDGLISFQEFVAFESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQ
VFGQTTIHQHIPFNWDSEFVQLHFGKERKRHLTYAEFTQFLLEIQLEHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHV
LTPFVEECLVAAAGGTTSHQVSFSYFNGFNSLLNNMELIRKIYSTLAGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQ
LADLYEPRGRMTLADIERIAPLEEGTLPFNLAEAQRQKASGDSARPVLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKT
RMQNQRSTGSFVGELMYKNSFDCFKKVLRYEGFFGLYRGLLPQLLGVAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILA
GGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALSVVRDLGFFGIYKGAKACFLRDIPFSAIYFPCYAHVKASFANE
DGQVSPGSLLLAGAIAGMPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPKALWKGAGARVFRSSPQFG
VTLLTYELLQRWFYIDFGGVKPMGSEPVPKSRINLPAPNPDHVGGYKLAVATFARIENKFGLYLPLFKPSVSTSKAIGGG
P*

Gene Symbol:SLC25A13
Accession:XM_047419712
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 660
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTHGKVKGEGDFLLHVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGESQPNPKTVELLSGVVDQTK
DGLISFQEFVAFESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQVFGQTTIHQHIPFNWDSEFVQLHFGKERKRHLTYA
EFTQFLLEIQLEHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFSYFNGFNSLLNN
MELIRKIYSTLAGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLADLYEPRGRMTLADIERIAPLEEGTLPFNLAEAQ
RQKASGDSARPVLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKTRMQNQRSTGSFVGELMYKNSFDCFKKVLRYEGFFG
LYRGLLPQLLGVAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVS
ALSVVRDLGFFGIYKGAKACFLRDIPFSAIYFPCYAHVKASFANEDGQVSPGSLLLAGAIAGMPAASLVTPADVIKTRLQ
VAARAGQTTYSGVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTYELLQRWFYIDFGGVKPMGSEPVPKSRINL
PAPNPDHVGGYKLAVATFARIENKFGLYLPLFKPSVSTSKAIGGGP*

Gene Symbol:SLC25A13
Accession:XM_047419715
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLADIERIAPLEEGTLPFNLAEAQRQKASGDSARPVLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKTRMQNQRSTGS
FVGELMYKNSFDCFKKVLRYEGFFGLYRGLLPQLLGVAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILAGGCAGGSQVI
FTNPLEIVKIRLQVAGEITTGPRVSALSVVRDLGFFGIYKGAKACFLRDIPFSAIYFPCYAHVKASFANEDGQVSPGSLL
LAGAIAGMPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTYELLQ
RWFYIDFGGVKPMGSEPVPKSRINLPAPNPDHVGGYKLAVATFARIENKFGLYLPLFKPSVSTSKAIGGGP*

Gene Symbol:SLC25A13
Accession:NR_027662
Location:EXON;NON-CODING

Gene Symbol:SLC25A13
Accession:XM_047419714
Location:INTRON

Gene Symbol:SLC25A13
Accession:XM_047419713
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000271327 CLINVAR
  RCV000328760 CLINVAR
  RCV000593765 CLINVAR
  RCV001095212 CLINVAR
  RCV001277318 CLINVAR
  RCV003168565 CLINVAR
dbSNP (RS) rs757317844 CLINVAR
MedGen C0268546 CLINVAR
  C0950123 CLINVAR
  C1863844 CLINVAR
  C1997910 CLINVAR
  C3661900 CLINVAR
  C4721769 CLINVAR
NCBI Gene SLC25A13 CLINVAR
OMIM 215700 CLINVAR
  603859 CLINVAR
SNOMED CT 429735007 CLINVAR