RGD:8555605 Rat Genome Database

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Variant: RGD:8555605 -  Homo sapiens

RGD ID: 8555605
RS ID: rs1337995343
ClinVar ID: CV15428
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 44,522,720
GRCh38 20 45,894,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001167594.3:c.726+9C>G
NM_001127695.3:c.777+9C>G
NC_000020.11:g.45894081C>G
NG_033108.1:g.2207G>C
More... 		04/09/2015 intron variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSA
Accession:NM_000308
Location:INTRON

Gene Symbol:CTSA
Accession:NM_001127695
Location:INTRON

Gene Symbol:CTSA
Accession:NM_001167594
Location:INTRON

Gene Symbol:CTSA
Accession:NR_133656
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9603439  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000420 CLINVAR
dbSNP (RS) rs1337995343 CLINVAR
MedGen C4017292 CLINVAR
NCBI Gene CTSA CLINVAR
OMIM 613111 CLINVAR
OMIM Allele 613111.0015 CLINVAR