RGD:12838985 Rat Genome Database

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Variant: RGD:12838985 -  Homo sapiens

RGD ID: 12838985
RS ID: rs762748091
ClinVar ID: CV377835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 15,349,855
GRCh38 X 15,331,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_160t1:c.198G>A
NM_020473.3:c.13+3768G>A
LRG_160:g.8806G>A
NG_009786.1:g.8806G>A
More... 		05/07/2018 intron variant benign|likely benign AllHighlyPenetrant; 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:NM_002641
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGI
RYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFA
DVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVE
AASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDR
VSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR*

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

Gene Symbol:PIGA
Accession:NM_020473
Location:INTRON

Gene Symbol:PIGA
Accession:XM_011545539
Location:INTRON

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 RCV000427977 CLINVAR
  RCV001518222 CLINVAR
dbSNP (RS) rs762748091 CLINVAR
MedGen C3275508 CLINVAR
  CN169374 CLINVAR
NCBI Gene PIGA CLINVAR
OMIM 300868 CLINVAR
  311770 CLINVAR