RGD:8690794 Rat Genome Database

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Variant: RGD:8690794 -  Homo sapiens

RGD ID: 8690794
RS ID: rs145821780
ClinVar ID: CV140748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,774,850
GRCh38 11 1,753,620
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.15373C>T
NC_000011.10:g.1753620G>A
NC_000011.9:g.1774850G>A
NP_001900.1:p.Asp374=
More... 		12/17/2018 synonymous variant benign|likely benign AllHighlyPenetrant; Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124630 CLINVAR
  RCV000632755 CLINVAR
dbSNP (RS) rs145821780 CLINVAR
MedGen C0027877 CLINVAR
  CN169374 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR