RGD:10406251 Rat Genome Database

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Variant: RGD:10406251 -  Homo sapiens

RGD ID: 10406251
RS ID: rs797045137
ClinVar ID: CV205409
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,780,224
GRCh38 11 1,758,994
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.9999G>T
NC_000011.10:g.1758994C>A
NC_000011.9:g.1780224C>A
NP_001900.1:p.Gly149Val
More... 		11/11/2014 missense variant pathogenic Ceroid lipofuscinosis neuronal Cathepsin D-deficient; CTSD-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSVYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*
Variant Samples
Additional References at PubMed
PMID:25298308  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000190882 CLINVAR
dbSNP (RS) rs797045137 CLINVAR
MedGen C1864669 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
  610127 CLINVAR
OMIM Allele 116840.0004 CLINVAR