RGD:13808995 Rat Genome Database

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Variant: RGD:13808995 -  Homo sapiens

RGD ID: 13808995
RS ID: rs1569529715
ClinVar ID: CV573904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXP3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 49,112,217
GRCh38 X 49,255,756
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_62t1:c.694T>G
LRG_62:g.14072T>G
NG_007392.1:g.14072T>G
NC_000023.11:g.49255756A>C
More... 		08/28/2021 missense variant pathogenic|likely pathogenic 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_001114377
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLSTVDAHART
PVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEWVSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLA
NGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQGLLQREMVQSLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASS
DKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPE
KQRTLNEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKRSQRPSRCSNPTPGP*

Gene Symbol:FOXP3
Accession:NM_014009
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLPTLPLVMVA
PSGARLGPLPHLQALLQDRPHFMHQLSTVDAHARTPVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEW
VSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQGLLQREMVQ
SLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSDKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNST
FPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTLNEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVES
EKGAVWTVDELEFRKKRSQRPSRCSNPTPGP*
Variant Samples
Additional References at PubMed
PMID:24792626   PMID:28492532   PMID:30510991  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000701902 CLINVAR
dbSNP (RS) rs1569529715 CLINVAR
MedGen C0342288 CLINVAR
NCBI Gene FOXP3 CLINVAR
OMIM 300292 CLINVAR
  304790 CLINVAR
SNOMED CT 237618001 CLINVAR