RGD:13216461 Rat Genome Database

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Variant: RGD:13216461 -  Homo sapiens

RGD ID: 13216461
RS ID: rs111856931
ClinVar ID: CV430822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 49,114,014
GRCh38 X 49,257,557
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_62t1:c.324G>A
LRG_62:g.12275G>A
NG_007392.1:g.12275G>A
NC_000023.11:g.49257557C>T
More... 		10/30/2022 synonymous variant benign|likely benign AllHighlyPenetrant; 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: T to T (synonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLSTVDAHART
PVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEWVSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLA
NGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQSLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASS
DKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPE
KQRTLNEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKRSQRPSRCSNPTPGP*

Gene Symbol:FOXP3
Accession:NM_014009
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLPTLPLVMVA
PSGARLGPLPHLQALLQDRPHFMHQLSTVDAHARTPVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEW
VSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQ
SLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSDKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNST
FPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTLNEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVES
EKGAVWTVDELEFRKKRSQRPSRCSNPTPGP*
Variant Samples
Additional References at PubMed
PMID:11137993   PMID:23313429   PMID:25741868   PMID:28492532   PMID:29193502   PMID:33194927   PMID:33523441  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000503676 CLINVAR
  RCV000905469 CLINVAR
  RCV003960166 CLINVAR
dbSNP (RS) rs111856931 CLINVAR
MedGen C0342288 CLINVAR
  CN169374 CLINVAR
NCBI Gene FOXP3 CLINVAR
OMIM 300292 CLINVAR
  304790 CLINVAR
SNOMED CT 237618001 CLINVAR