RGD:152116502 Rat Genome Database

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Variant: RGD:152116502 -  Homo sapiens

RGD ID: 152116502
RS ID: rs1484884500
ClinVar ID: CV1645705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACP5  LOC124904638  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 11,687,051
GRCh38 19 11,576,236
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1218t1:c.735+7G>T
NM_001111034.3:c.735+7G>T
NM_001111035.3:c.735+7G>T
NM_001111036.3:c.735+7G>T
More... 		09/19/2021 intron variant likely benign COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA; ROIFMAN IMMUNOSKELETAL SYNDROME; SPONDYLOENCHONDRODYSPLASIA WITH OR WITHOUT IMMUNE DYSREGULATION
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACP5
Accession:NM_001111034
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001111036
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001111035
Location:INTRON

Gene Symbol:ACP5
Accession:XM_005259938
Location:INTRON

Gene Symbol:ACP5
Accession:XM_047438944
Location:INTRON

Gene Symbol:ACP5
Accession:XM_047438945
Location:INTRON

Gene Symbol:ACP5
Accession:XM_011528069
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001611
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001322023
Location:INTRON

Gene Symbol:LOC124904638
Accession:XR_007067140
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002175000 CLINVAR
dbSNP (RS) rs1484884500 CLINVAR
MedGen C1842763 CLINVAR
NCBI Gene ACP5 CLINVAR
OMIM 171640 CLINVAR
  607944 CLINVAR