RGD:34888497 Rat Genome Database

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Variant: RGD:34888497 -  Homo sapiens

RGD ID: 34888497
RS ID: rs1934288587
ClinVar ID: CV917754
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP1S2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 15,872,810
GRCh38 X 15,854,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009274.2:g.5291G>A
NC_000023.11:g.15854687C>T
NM_003916.3:c.-1+1G>A
NM_003916.5:c.-1+1G>A
More... 		01/29/2020 splice donor variant pathogenic|likely pathogenic Syndromic X-linked intellectual disability 5; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AP1S2
Accession:NM_001369008
Location:5UTRS;INTRON

Gene Symbol:AP1S2
Accession:NM_001369007
Location:5UTRS;INTRON

Gene Symbol:AP1S2
Accession:NM_003916
Location:5UTRS;INTRON

Gene Symbol:AP1S2
Accession:NM_001368994
Location:5UTRS;INTRON

Gene Symbol:AP1S2
Accession:NM_001272071
Location:5UTRS;INTRON

Gene Symbol:AP1S2
Accession:XM_047442606
Location:INTRON

Gene Symbol:AP1S2
Accession:XM_047442607
Location:INTRON

Gene Symbol:AP1S2
Accession:NR_160933
Location:INTRON;NON-CODING

Gene Symbol:AP1S2
Accession:NR_160932
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:33847015  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001194623 CLINVAR
dbSNP (RS) rs1934288587 CLINVAR
MedGen C0796254 CLINVAR
NCBI Gene AP1S2 CLINVAR
OMIM 300629 CLINVAR
  300630 CLINVAR
  304340 CLINVAR
SNOMED CT 719139003 CLINVAR