RGD:405103606 Rat Genome Database

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Variant: RGD:405103606 -  Homo sapiens

RGD ID: 405103606
ClinVar ID: CV2893039
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 4,829,568
GRCh38 7 4,789,937
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1247t1:c.1805+8C>G
NM_001364858.1:c.1337+8C>G
NM_014855.3:c.1805+8C>G
LRG_1247:g.19307C>G
More... 		04/03/2023 intron variant likely benign Spastic paraplegia 48, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AP5Z1
Accession:NM_001364858
Location:INTRON

Gene Symbol:AP5Z1
Accession:NM_014855
Location:INTRON

Gene Symbol:AP5Z1
Accession:XM_047421098
Location:INTRON

Gene Symbol:AP5Z1
Accession:NR_157345
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003497149 CLINVAR
MedGen C3150901 CLINVAR
NCBI Gene AP5Z1 CLINVAR
OMIM 613647 CLINVAR
  613653 CLINVAR