RGD:11552001 Rat Genome Database

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Variant: RGD:11552001 -  Homo sapiens

RGD ID: 11552001
RS ID: rs4654760
ClinVar ID: CV249725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALPL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 21,903,180
GRCh38 1 21,576,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001177520.3:c.1078+46C>T
NG_008940.1:g.72323C>T
NC_000001.11:g.21576687C>T
NC_000001.10:g.21903180C>T
More... 		07/01/2021 intron variant benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALPL
Accession:NM_000478
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001369803
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001127501
Location:INTRON

Gene Symbol:ALPL
Accession:XM_017000903
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001369805
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001369804
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001177520
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000253791 CLINVAR
  RCV001533625 CLINVAR
  RCV001533626 CLINVAR
  RCV001533671 CLINVAR
  RCV001668431 CLINVAR
dbSNP (RS) rs4654760 CLINVAR
MedGen C0220743 CLINVAR
  C0268412 CLINVAR
  C0268413 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALPL CLINVAR
OMIM 146300 CLINVAR
  171760 CLINVAR
  241500 CLINVAR
  241510 CLINVAR
SNOMED CT 20756002 CLINVAR
  30174008 CLINVAR
  55236002 CLINVAR