RGD:126758144 Rat Genome Database

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Variant: RGD:126758144 -  Homo sapiens

RGD ID: 126758144
RS ID: rs201778935
ClinVar ID: CV988306
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTLA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 204,732,687
GRCh38 2 203,867,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1220t1:c.22C>T
NM_001037631.3:c.22C>T
NM_005214.5:c.22C>T
LRG_1220:g.5179C>T
More...
10/19/2020 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: R to W (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQWHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDS
DFLLWILAAVSSGLFFYSFLLTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN*

Gene Symbol:CTLA4
Accession:NM_001037631
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQWHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIAKEKKPSY
NRGLCENAPNRARM*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001299100 CLINVAR
dbSNP (RS) rs201778935 CLINVAR
MedGen C4015214 CLINVAR
NCBI Gene CTLA4 CLINVAR
OMIM 123890 CLINVAR
  616100 CLINVAR