RGD:151819737 Rat Genome Database

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Variant: RGD:151819737 -  Homo sapiens

RGD ID: 151819737
RS ID: rs2145815136
ClinVar ID: CV1511393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSA  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,521,059
GRCh38 20 45,892,420
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_133656.2:n.425A>T
NM_000308.4:c.380A>T
NG_033108.1:g.3868T>A
NG_008291.1:g.6469A>T
More... 		10/12/2021 missense variant uncertain significance CATHEPSIN A DEFICIENCY; Cathepsin A deficiency of; Galactosialidosis; Goldberg syndrome; Lysosomal protective protein deficiency of; Neuraminidase deficiency with beta-galactosidase deficiency; Neuraminidase/beta-galactosidase expression; Protective protein/Cathepsin A deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSA
Accession:NM_001167594
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVL
WLNGGPGCSSLDGLLTEHGPFLIANVLYLVSPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGE
SYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECV
TNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAA
STYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQ
KMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY*

Gene Symbol:CTSA
Accession:NM_001127695
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVL
WLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLVSPAGVGFSYSDDKFYATNDTEVAQSNFEALQDF
FRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHC
CSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLR
SGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVD
MACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY
*

Gene Symbol:CTSA
Accession:NM_000308
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVL
WLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLVSPAGVGFSYSDDKFYATNDTEVAQSNFEALQDF
FRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHC
CSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLR
SGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVD
MACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY
*

Gene Symbol:CTSA
Accession:NR_133656
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001960813 CLINVAR
dbSNP (RS) rs2145815136 CLINVAR
MedGen C0268233 CLINVAR
NCBI Gene CTSA CLINVAR
OMIM 256540 CLINVAR
  613111 CLINVAR
SNOMED CT 35691006 CLINVAR