RGD:151845874 Rat Genome Database

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Variant: RGD:151845874 -  Homo sapiens

RGD ID: 151845874
RS ID: rs2105776000
ClinVar ID: CV1353557
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTLA4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 204,736,125
GRCh38 2 203,871,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1220:g.8617A>C
LRG_1220p1:p.Asp161Ala
NP_005205.2:p.Asp161Ala
LRG_1220t1:c.482A>C
More... 		10/16/2021 intron 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: D to A (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDS
AFLLWILAAVSSGLFFYSFLLTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN*

Gene Symbol:CTLA4
Accession:NM_001037631
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001957321 CLINVAR
dbSNP (RS) rs2105776000 CLINVAR
MedGen C4015214 CLINVAR
NCBI Gene CTLA4 CLINVAR
OMIM 123890 CLINVAR
  616100 CLINVAR