RGD:11594800 Rat Genome Database

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Variant: RGD:11594800 -  Homo sapiens

RGD ID: 11594800
RS ID: rs773520179
ClinVar ID: CV303118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  LOC129997864  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 4,831,926
GRCh38 7 4,792,295
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028111.1:g.21665G>A
NC_000007.14:g.4792295G>A
NC_000007.13:g.4831926G>A
LRG_1247t1:c.*910G>A
More... 		06/14/2016 3 prime utr variant uncertain significance Spastic paraplegia 48, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AP5Z1
Accession:NM_014855
Location:3UTRS;EXON

Gene Symbol:AP5Z1
Accession:NM_001364858
Location:3UTRS;EXON

Gene Symbol:AP5Z1
Accession:XM_047421098
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000363366 CLINVAR
dbSNP (RS) rs773520179 CLINVAR
MedGen C3150901 CLINVAR
NCBI Gene AP5Z1 CLINVAR
  LOC129997864 CLINVAR
OMIM 613647 CLINVAR
  613653 CLINVAR