RGD:405193763 Rat Genome Database

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Variant: RGD:405193763 -  Homo sapiens

RGD ID: 405193763
ClinVar ID: CV2945408
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGN  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 59,774,335
GRCh38 18 62,107,102
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_012327.6:c.1575-17C>G
NM_176787.5:c.1575-17C>G
NG_033144.2:g.84954C>G
NG_033144.1:g.84955C>G
More... 		01/29/2024 intron variant likely benign Congenital disorder of glycosylation due to PIGN deficiency; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3; PIGN-CDG
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2945408Humanmultiple congenital anomalies-hypotonia-seizures syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1ClinVarPMID:28492532
Gene Symbol:PIGN
Accession:XM_047437436
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437434
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437455
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437448
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525889
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525898
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437438
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437432
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437447
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437464
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437459
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437451
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437457
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437442
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437440
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437435
Location:INTRON

Gene Symbol:PIGN
Accession:NM_012327
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437449
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437452
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437462
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437430
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525892
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525894
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525895
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525896
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437450
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437437
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525891
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437458
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437453
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437463
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437446
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437460
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525890
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437431
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437439
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437433
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437456
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437454
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437443
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437441
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525893
Location:INTRON

Gene Symbol:PIGN
Accession:XM_017025685
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437445
Location:INTRON

Gene Symbol:PIGN
Accession:NM_176787
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437461
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437444
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003641193 CLINVAR
MedGen C3279775 CLINVAR
NCBI Gene PIGN CLINVAR
OMIM 606097 CLINVAR
  614080 CLINVAR