RGD:402498819 Rat Genome Database

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Variant: RGD:402498819 -  Homo sapiens

RGD ID: 402498819
ClinVar ID: CV3018781
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 15,339,911
GRCh38 X 15,321,789
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020473.3:c.487-17G>T
LRG_160:g.18750G>T
NG_009786.1:g.18750G>T
NC_000023.11:g.15321789C>A
More... 		07/19/2023 intron variant likely benign EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIGA
Accession:XM_011545539
Location:INTRON

Gene Symbol:PIGA
Accession:NM_020473
Location:INTRON

Gene Symbol:PIGA
Accession:NM_002641
Location:INTRON

Gene Symbol:PIGA
Accession:NR_033835
Location:INTRON;NON-CODING

Gene Symbol:PIGA
Accession:NR_033836
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003644663 CLINVAR
MedGen C3275508 CLINVAR
NCBI Gene PIGA CLINVAR
OMIM 300868 CLINVAR
  311770 CLINVAR