RGD:401875380 Rat Genome Database

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Variant: RGD:401875380 -  Homo sapiens

RGD ID: 401875380
ClinVar ID: CV2749968
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 73,579,470
GRCh38 10 71,819,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002778.4:c.1192+1G>A
NM_001042466.3:c.1198+1G>A
NM_001042465.3:c.1201+1G>A
NG_009301.1:g.36613G>A
More... 		06/08/2023 splice donor variant pathogenic COMBINED SAP DEFICIENCY; Combined saposin deficiency; Encephalopathy due to prosaposin deficiency; PROSAPOSIN DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSAP
Accession:NM_002778
Location:INTRON

Gene Symbol:PSAP
Accession:NM_001042466
Location:INTRON

Gene Symbol:PSAP
Accession:NM_001042465
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003333380 CLINVAR
MedGen C2673635 CLINVAR
NCBI Gene PSAP CLINVAR
OMIM 176801 CLINVAR
  611721 CLINVAR