RGD:14397148 Rat Genome Database

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Variant: RGD:14397148 -  Homo sapiens

RGD ID: 14397148
RS ID: rs1559591813
ClinVar ID: CV612589
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTLA4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 204,735,591
GRCh38 2 203,870,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1220t1:c.392T>C
LRG_1220:g.8083T>C
NC_000002.11:g.204735591T>C
LRG_1220p1:p.Val131Ala
More... 		09/30/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CTLA4
Accession:NM_001037631
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKAELMYPPPYYLGIGNGTQIYVIAKEKKPSY
NRGLCENAPNRARM*

Gene Symbol:CTLA4
Accession:NM_005214
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKAELMYPPPYYLGIGNGTQIYVIDPEPCPDS
DFLLWILAAVSSGLFFYSFLLTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000762312 CLINVAR
dbSNP (RS) rs1559591813 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CTLA4 CLINVAR
OMIM 123890 CLINVAR