RGD:38486234 Rat Genome Database

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Variant: RGD:38486234 -  Homo sapiens

RGD ID: 38486234
RS ID: rs1688757847
ClinVar ID: CV942569
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTLA4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 204,737,495
GRCh38 2 203,872,772
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1220t1:c.632G>A
NM_001037631.3:c.522G>A
NM_005214.5:c.632G>A
LRG_1220:g.9987G>A
More... 		07/11/2019 missense variant uncertain significance Autoimmune lymphoproliferative syndrome 5; Autoimmune lymphoproliferative syndrome type V; CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION; IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTLA4
Accession:NM_005214
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDS
DFLLWILAAVSSGLFFYSFLLTAVSLSKMLKKRSPLTTGVYVKMPPTEPEYEKQFQPYFIPIN*

Gene Symbol:CTLA4
Accession:NM_001037631
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIAKEKKPSY
NRGLCENAPNRARI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001237117 CLINVAR
  RCV002567908 CLINVAR
dbSNP (RS) rs1688757847 CLINVAR
MedGen C0950123 CLINVAR
  C4015214 CLINVAR
NCBI Gene CTLA4 CLINVAR
OMIM 123890 CLINVAR
  616100 CLINVAR