RGD:127295484 Rat Genome Database

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Variant: RGD:127295484 -  Homo sapiens

RGD ID: 127295484
RS ID: rs200250079
ClinVar ID: CV1127521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACP5  LOC124904638  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 11,687,673
GRCh38 19 11,576,858
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028127.1:g.7129A>G
NC_000019.10:g.11576858T>C
NC_000019.9:g.11687673T>C
LRG_1218t1:c.262-15A>G
More... 		10/08/2020 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:XM_047438945
Location:INTRON

Gene Symbol:ACP5
Accession:XM_047438944
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001111036
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001611
Location:INTRON

Gene Symbol:ACP5
Accession:XM_011528069
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001111035
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001322023
Location:INTRON

Gene Symbol:ACP5
Accession:NM_001111034
Location:INTRON

Gene Symbol:ACP5
Accession:XM_005259938
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 RCV001452523 CLINVAR
dbSNP (RS) rs200250079 CLINVAR
MedGen C1842763 CLINVAR
NCBI Gene ACP5 CLINVAR
OMIM 171640 CLINVAR
  607944 CLINVAR