RGD:21068136 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:21068136 -  Homo sapiens

RGD ID: 21068136
RS ID: rs1600363764
ClinVar ID: CV797963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CST3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 23,615,908
GRCh38 20 23,635,271
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012887.3:g.7667C>T
NC_000020.11:g.23635271G>A
NP_001275543.1:p.Gln114Ter
NM_000099.4:c.340C>T
More...
02/01/2019 nonsense uncertain significance ACys amyloidosis; AMYLOIDOSIS VI; AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE; CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CST3
Accession:NM_000099
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVEEEGVRRALDFAVGEYNKASNDMYHSRALQVVRARK
QIVAGVNYFLDVELGRTTCTKTQPNLDNCPFHD*PHLKRKAFCSFQIYAVPWQGTMTLSKSTCQDA*

Gene Symbol:CST3
Accession:NM_001288614
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVEEEGVRRALDFAVGEYNKASNDMYHSRALQVVRARK
QIVAGVNYFLDVELGRTTCTKTQPNLDNCPFHD*PHLKRKAFCSFQIYAVPWQGTMTLSKSTCQDA*

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000997756 CLINVAR
  RCV003323779 CLINVAR
  RCV003448356 CLINVAR
dbSNP (RS) rs1600363764 CLINVAR
MedGen C1527338 CLINVAR
  C3661900 CLINVAR
NCBI Gene CST3 CLINVAR
OMIM 105150 CLINVAR
  604312 CLINVAR
SNOMED CT 45639009 CLINVAR