rs1057523809 Rat Genome Database

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Variant: rs1057523809 -  Homo sapiens

RGD ID: 12836989
RS ID: rs1057523809
ClinVar ID: CV372304
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  LOC130005119  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,785,121
GRCh38 11 1,763,891
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008655.1:g.5102C>T
NC_000011.10:g.1763891G>A
NC_000011.9:g.1785121G>A
NM_001909.5:c.-32C>T
More...
11/02/2016 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000424377 CLINVAR
dbSNP (RS) rs1057523809 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CTSD CLINVAR
  LOC130005119 CLINVAR
OMIM 116840 CLINVAR