RGD:156359822 Rat Genome Database

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Variant: RGD:156359822 -  Homo sapiens

RGD ID: 156359822
ClinVar ID: CV1887618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 73,591,694
GRCh38 10 71,831,937
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042465.3:c.175-17C>T
NM_001042466.3:c.175-17C>T
NM_002778.4:c.175-17C>T
NG_009301.1:g.24389C>T
More... 		09/26/2022 intron variant likely benign Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency; Metachromatic leukodystrophy due to saposin B deficiency; Saposin B 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003091627 CLINVAR
MedGen C0268262 CLINVAR
NCBI Gene PSAP CLINVAR
OMIM 176801 CLINVAR
  249900 CLINVAR
SNOMED CT 68390005 CLINVAR