RGD:405187963 Rat Genome Database

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Variant: RGD:405187963 -  Homo sapiens

RGD ID: 405187963
ClinVar ID: CV3016601
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC132090498  PIGN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 59,781,879
GRCh38 18 62,114,646
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.1173-7T>C
NM_176787.5:c.1173-7T>C
NG_231056.1:g.110A>G
NG_033144.2:g.77410T>C
More... 		04/07/2023 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003640460 CLINVAR
MedGen C3279775 CLINVAR
NCBI Gene LOC132090498 CLINVAR
  PIGN CLINVAR
OMIM 606097 CLINVAR
  614080 CLINVAR