rs989538601 Rat Genome Database

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Variant: rs989538601 -  Homo sapiens

RGD ID: 150334696
RS ID: rs989538601
ClinVar ID: CV1164315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 4,827,263
GRCh38 7 4,787,632
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.4827263A>G
NG_028111.1:g.17002A>G
LRG_1247:g.17002A>G
LRG_1247t1:c.1312-2A>G
More... 		10/26/2023 non-coding transcript variant likely pathogenic|uncertain significance none provided; Spastic paraplegia 48, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:AP5Z1
Accession:XM_047421098
Location:INTRON

Gene Symbol:AP5Z1
Accession:NM_014855
Location:INTRON

Gene Symbol:AP5Z1
Accession:NM_001364858
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27165006  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001529809 CLINVAR
  RCV002469403 CLINVAR
dbSNP (RS) rs989538601 CLINVAR
MedGen C3150901 CLINVAR
  C3661900 CLINVAR
NCBI Gene AP5Z1 CLINVAR
OMIM 613647 CLINVAR
  613653 CLINVAR