RGD:13618877 Rat Genome Database

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Variant: RGD:13618877 -  Homo sapiens

RGD ID: 13618877
RS ID: rs1557115591
ClinVar ID: CV535026
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXP3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 49,108,142
GRCh38 X 49,251,681
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_054728.2:p.His377Asp
LRG_62t1:c.1129C>G
LRG_62:g.18147C>G
NG_007392.1:g.18147C>G
More... 		01/20/2019 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 D (nonsynonymous)
Amino Acid Position: 377
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLPTLPLVMVA
PSGARLGPLPHLQALLQDRPHFMHQLSTVDAHARTPVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEW
VSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQ
SLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSDKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNST
FPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTLNEIYHWFTRMFAFFRNDPATWKNAIRHNLSLHKCFVRVES
EKGAVWTVDELEFRKKRSQRPSRCSNPTPGP*

Gene Symbol:FOXP3
Accession:NM_001114377
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLSTVDAHART
PVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEWVSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLA
NGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQSLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASS
DKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPE
KQRTLNEIYHWFTRMFAFFRNDPATWKNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKRSQRPSRCSNPTPGP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000635246 CLINVAR
dbSNP (RS) rs1557115591 CLINVAR
MedGen C0342288 CLINVAR
NCBI Gene FOXP3 CLINVAR
OMIM 300292 CLINVAR
  304790 CLINVAR
SNOMED CT 237618001 CLINVAR