RGD:13785328 Rat Genome Database

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Variant: RGD:13785328 -  Homo sapiens

RGD ID: 13785328
RS ID: rs1555538151
ClinVar ID: CV548299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASPA  SPATA22  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 3,379,641
GRCh38 17 3,476,347
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.3379641G>C
NP_000040.1:p.Arg63Thr
NP_001121557.1:p.Arg63Thr
NM_001128085.1:c.188G>C
More... 		01/05/2018 intron variant|missense variant uncertain significance ACY2 deficiency; Aminoacylase 2 deficiency; ASP deficiency; Aspartoacylase deficiency; Canavan disease; Canavan-van Bogaert-Bertrand disease; Spongy degeneration of the central nervous system; Von Bogaert-Bertrand disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPATA22
Accession:NM_001321337
Location:5UTRS;INTRON

Gene Symbol:SPATA22
Accession:NM_001321336
Location:5UTRS;INTRON

Gene Symbol:ASPA
Accession:NM_000049
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTTYIDCDLNRIFDLENLGK
KMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHP
SLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIA
AIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH*

Gene Symbol:ASPA
Accession:XM_017024661
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTTYIDCDLNRIFDLENLGK
KMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHP
SLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIA
AIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH*

Gene Symbol:ASPA
Accession:NM_001128085
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTTYIDCDLNRIFDLENLGK
KMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHP
SLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIA
AIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH*

Gene Symbol:SPATA22
Accession:NM_032598
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170699
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170696
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170697
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170695
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170698
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28101991  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000671923 CLINVAR
dbSNP (RS) rs1555538151 CLINVAR
MedGen C0206307 CLINVAR
NCBI Gene ASPA CLINVAR
  SPATA22 CLINVAR
OMIM 271900 CLINVAR
  608034 CLINVAR
  617673 CLINVAR
SNOMED CT 80544005 CLINVAR