RGD:405273436 Rat Genome Database

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Variant: RGD:405273436 -  Homo sapiens

RGD ID: 405273436
ClinVar ID: CV3197814
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 1,775,299
GRCh38 11 1,754,069
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001909.5:c.897C>A
NG_008655.1:g.14924C>A
NC_000011.10:g.1754069G>T
NC_000011.9:g.1775299G>T
More... 		03/10/2021 synonymous variant likely benign CTSD-related condition

Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003901777 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR