RGD:126734891 Rat Genome Database

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Variant: RGD:126734891 -  Homo sapiens

RGD ID: 126734891
RS ID: rs782429831
ClinVar ID: CV1022176
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXP3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 49,109,654
GRCh38 X 49,253,193
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001114377.2:c.872A>G
NP_001107849.1:p.His291Arg
NP_054728.2:p.His326Arg
NM_014009.4:c.977A>G
More... 		10/29/2020 missense variant uncertain significance Autoimmunity-immunodeficiency syndrome X-linked; DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA; Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy; IDDM secretory diarrhea syndrome; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX and IPEX-Like; Polyendocrinopathy, immune dysfunction and diarrhea X-linked; X-linked autoimmunity-allergic dysregulation syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FOXP3
Accession:NM_014009
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLPTLPLVMVA
PSGARLGPLPHLQALLQDRPHFMHQLSTVDAHARTPVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEW
VSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQ
SLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSDKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNST
FPEFLRNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTLNEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVES
EKGAVWTVDELEFRKKRSQRPSRCSNPTPGP*

Gene Symbol:FOXP3
Accession:NM_001114377
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLSTVDAHART
PVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEWVSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLA
NGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQSLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASS
DKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNSTFPEFLRNMDYFKFHNMRPPFTYATLIRWAILEAPE
KQRTLNEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKRSQRPSRCSNPTPGP*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001334727 CLINVAR
dbSNP (RS) rs782429831 CLINVAR
MedGen C0342288 CLINVAR
NCBI Gene FOXP3 CLINVAR
OMIM 300292 CLINVAR
  304790 CLINVAR
SNOMED CT 237618001 CLINVAR