RGD:127293560 Rat Genome Database

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Variant: RGD:127293560 -  Homo sapiens

RGD ID: 127293560
RS ID: rs2147723722
ClinVar ID: CV1129450
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 15,349,654
GRCh38 X 15,331,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020473.3:c.13+3969T>C
NM_002641.4:c.399T>C
LRG_160:g.9007T>C
NG_009786.1:g.9007T>C
More... 		06/04/2020 intron variant likely benign 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: A to A (synonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGI
RYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFA
DVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVE
AASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDR
VSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001476619 CLINVAR
dbSNP (RS) rs2147723722 CLINVAR
MedGen C3275508 CLINVAR
NCBI Gene PIGA CLINVAR
OMIM 300868 CLINVAR
  311770 CLINVAR