RGD:151867141 Rat Genome Database

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Variant: RGD:151867141 -  Homo sapiens

RGD ID: 151867141
RS ID: rs1921932909
ClinVar ID: CV1468975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 15,343,270
GRCh38 X 15,325,148
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.15325148G>A
NC_000023.10:g.15343270G>A
NR_033836.1:n.311C>T
NR_033835.1:n.595C>T
More... 		08/26/2021 missense variant uncertain significance 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_020473
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELTGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVCLLGALEHKDVRNVLVQGHIFLNTSLTEAF
CMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERT
EKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRG
GENNEISETR*

Gene Symbol:PIGA
Accession:NM_002641
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 285
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGI
RYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFA
DVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVCLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVE
AASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDR
VSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR*

Gene Symbol:PIGA
Accession:XM_011545539
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLSLREGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVCLLGALEHKDVRNVLVQGHIFLNTSLT
EAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVA
ERTEKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHS
KRGGENNEISETR*

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

Gene Symbol:PIGA
Accession:NR_033836
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002018486 CLINVAR
  RCV003984156 CLINVAR
dbSNP (RS) rs1921932909 CLINVAR
MedGen C3275508 CLINVAR
NCBI Gene PIGA CLINVAR
OMIM 300868 CLINVAR
  311770 CLINVAR