RGD:405085983 Rat Genome Database

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Variant: RGD:405085983 -  Homo sapiens

RGD ID: 405085983
ClinVar ID: CV2868509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 44,048,238
GRCh38 20 45,419,598
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184730.3:c.375+8A>G
NM_001184728.3:c.513+8A>G
NM_001184729.3:c.681+8A>G
NM_015937.6:c.681+8A>G
More... 		10/14/2023 intron variant likely benign GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIGT
Accession:NM_015937
Location:INTRON

Gene Symbol:PIGT
Accession:NM_001184730
Location:INTRON

Gene Symbol:PIGT
Accession:NM_001184729
Location:INTRON

Gene Symbol:PIGT
Accession:NM_001184728
Location:INTRON

Gene Symbol:PIGT
Accession:NR_047691
Location:INTRON;NON-CODING

Gene Symbol:PIGT
Accession:NR_047695
Location:INTRON;NON-CODING

Gene Symbol:PIGT
Accession:NR_047693
Location:INTRON;NON-CODING

Gene Symbol:PIGT
Accession:NR_047694
Location:INTRON;NON-CODING

Gene Symbol:PIGT
Accession:NR_047692
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003582462 CLINVAR
MedGen C3809356 CLINVAR
NCBI Gene PIGT CLINVAR
OMIM 610272 CLINVAR
  615398 CLINVAR