RGD:15129146 Rat Genome Database

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Variant: RGD:15129146 -  Homo sapiens

RGD ID: 15129146
RS ID: rs200475470
ClinVar ID: CV773844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 15,349,933
GRCh38 X 15,331,811
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+3690C>T
NR_033835.1:n.236C>T
NG_009786.1:g.8728C>T
NC_000023.11:g.15331811G>A
More... 		11/05/2020 intron variant 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: D to D (synonymous)
Amino Acid Position: 40
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 RCV001513734 CLINVAR
dbSNP (RS) rs200475470 CLINVAR
MedGen C3275508 CLINVAR
NCBI Gene PIGA CLINVAR
OMIM 300868 CLINVAR
  311770 CLINVAR