rs2230067 Rat Genome Database

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Variant: rs2230067 -  Homo sapiens

RGD ID: 8659399
RS ID: rs2230067
ClinVar ID: CV134323
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,780,867
GRCh38 11 1,759,637
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.9356C>T
NC_000011.10:g.1759637G>A
NC_000011.9:g.1780867G>A
NP_001900.1:p.Ala77=
More... 		05/07/2018 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Ceroid lipofuscinosis neuronal Cathepsin D-deficient; Ceroid storage disease; CTSD-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000116855 CLINVAR
  RCV000625345 CLINVAR
  RCV000675958 CLINVAR
  RCV001517365 CLINVAR
  RCV002312085 CLINVAR
dbSNP (RS) rs2230067 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1864669 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
  610127 CLINVAR
SNOMED CT 42012007 CLINVAR