RGD:156164435 Rat Genome Database

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Variant: RGD:156164435 -  Homo sapiens

RGD ID: 156164435
ClinVar ID: CV2319710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSZ  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 57,581,505
GRCh38 20 59,006,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001336.4:c.179C>A
NG_143678.1:g.45G>T
NG_023300.2:g.5804C>A
NG_023300.1:g.5805C>A
More... 		12/27/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSZ
Accession:NM_001336
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARRGPGWRPLLLLVLLAGAAQGGLYFRRGQTCYRPLRGDGLAPLGRSTYPRPHEYLSPEDLPKSWDWRNVDGVNYASIT
RNQHIPQYCGSCWAHASTSAMADRINIKRKGAWPSTLLSVQNVIDCGNAGSCEGGNDLSVWDYAHQHGIPDETCNNYQAK
DQECDKFNQCGTCNEFKECHAIRNYTLWRVGDYGSLSGREKMMAEIYANGPISCGIMATERLANYTGGIYAEYQDTTYIN
HVVSVAGWGISDGTEYWIVRNSWGEPWGERGWLRIVTSTYKDGKGARYNLAIEEHCTFGDPIV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002955472 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CTSZ CLINVAR
OMIM 603169 CLINVAR