RGD:11584169 Rat Genome Database

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Variant: RGD:11584169 -  Homo sapiens

RGD ID: 11584169
RS ID: rs116162120
ClinVar ID: CV280352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALPL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 21,904,345
GRCh38 1 21,577,852
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008940.1:g.73488T>C
NC_000001.11:g.21577852T>C
NC_000001.10:g.21904345T>C
NM_000478.4:c.*204T>C
More... 		09/22/2018 3 prime utr variant benign|likely benign none provided; Phosphoethanol-aminuria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALPL
Accession:NM_001369804
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_000478
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_001127501
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_001369803
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_001177520
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:XM_017000903
Location:3UTRS;EXON

Gene Symbol:ALPL
Accession:NM_001369805
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000271933 CLINVAR
  RCV001564448 CLINVAR
dbSNP (RS) rs116162120 CLINVAR
MedGen C0020630 CLINVAR
  C3661900 CLINVAR
NCBI Gene ALPL CLINVAR
OMIM 171760 CLINVAR