RGD:12848437 Rat Genome Database

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Variant: RGD:12848437 -  Homo sapiens

RGD ID: 12848437
RS ID: rs201361742
ClinVar ID: CV379928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 15,339,869
GRCh38 X 15,321,747
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_160t1:c.1214C>T
LRG_160:g.18792C>T
NG_009786.1:g.18792C>T
NC_000023.11:g.15321747G>A
More... 		06/14/2021 missense variant benign|likely benign EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4; none provided
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 V (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGI
RYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFA
DVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVE
AASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDR
VSVEVVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR*

Gene Symbol:PIGA
Accession:XM_011545539
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLSLREGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLT
EAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVA
ERTEKVYDRVSVEVVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHS
KRGGENNEISETR*

Gene Symbol:PIGA
Accession:NM_020473
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELTGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAF
CMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERT
EKVYDRVSVEVVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRG
GENNEISETR*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000541463 CLINVAR
  RCV001698229 CLINVAR
dbSNP (RS) rs201361742 CLINVAR
MedGen C3275508 CLINVAR
  C3661900 CLINVAR
NCBI Gene PIGA CLINVAR
OMIM 300868 CLINVAR
  311770 CLINVAR