RGD:127282110 Rat Genome Database

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Variant: RGD:127282110 -  Homo sapiens

RGD ID: 127282110
RS ID: rs778373801
ClinVar ID: CV1084208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC132090498  PIGN  
Reference Nucleotide: -
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 59,781,881
GRCh38 18 62,114,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012327.6:c.1173-10_1173-9insA
NM_176787.5:c.1173-10_1173-9insA
NG_033144.1:g.77408_77409insA
NC_000018.10:g.62114648_62114649insT
More... 		10/29/2020 intron variant likely benign Congenital disorder of glycosylation due to PIGN deficiency; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3; PIGN-CDG
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIGN
Accession:XM_011525894
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437453
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525898
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437459
Location:INTRON

Gene Symbol:PIGN
Accession:XM_017025685
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437433
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437454
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437437
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437464
Location:INTRON

Gene Symbol:PIGN
Accession:NM_176787
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437431
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437451
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437448
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437460
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525892
Location:INTRON

Gene Symbol:PIGN
Accession:NM_012327
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437458
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437436
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437442
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437430
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437440
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437462
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437447
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437444
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437456
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437457
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437443
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437446
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525895
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437434
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437438
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525893
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525896
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525889
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437461
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525890
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437452
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437432
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525891
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437439
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437449
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437435
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437455
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437450
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437463
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437445
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437441
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001410914 CLINVAR
dbSNP (RS) rs778373801 CLINVAR
MedGen C3279775 CLINVAR
NCBI Gene LOC132090498 CLINVAR
  PIGN CLINVAR
OMIM 606097 CLINVAR
  614080 CLINVAR