RGD:151842119 Rat Genome Database

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Variant: RGD:151842119 -  Homo sapiens

RGD ID: 151842119
RS ID: rs202220796
ClinVar ID: CV1438315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 44,049,038
GRCh38 20 45,420,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184730.3:c.530G>A
NC_000020.11:g.45420398G>A
NC_000020.10:g.44049038G>A
NR_047695.2:n.445G>A
More... 		09/24/2021 missense variant uncertain significance GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIGT
Accession:NM_001184729
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPL
GLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESQVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDL
LDTAMINNSRNLNIQLKWKRPPENGYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVS
PSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLL
TRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_001184728
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYH
SQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESQVYVDITTYNQDNETLEV
HPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTH
PYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEY
TPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVV
AVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_015937
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPL
GLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESQVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDL
LDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTL
TITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVA
AKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGG
LAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_001184730
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDTDHYFLRYAVLPREVVC
TENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFR
MFSRTLTEPCPLASESQVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPP
ENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDR
LQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGS
NYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NR_047691
Location:EXON;NON-CODING

Gene Symbol:PIGT
Accession:NR_047694
Location:EXON;NON-CODING

Gene Symbol:PIGT
Accession:NR_047692
Location:EXON;NON-CODING

Gene Symbol:PIGT
Accession:NR_047693
Location:EXON;NON-CODING

Gene Symbol:PIGT
Accession:NR_047695
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001921656 CLINVAR
dbSNP (RS) rs202220796 CLINVAR
MedGen C3809356 CLINVAR
NCBI Gene PIGT CLINVAR
OMIM 610272 CLINVAR
  615398 CLINVAR