RGD:151847449 Rat Genome Database

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Variant: RGD:151847449 -  Homo sapiens

RGD ID: 151847449
RS ID: rs778543062
ClinVar ID: CV1513314
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,052,900
GRCh38 20 45,424,260
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.973C>T
NG_047154.1:g.13194C>T
NC_000020.11:g.45424260C>T
NC_000020.10:g.44052900C>T
More... 		10/06/2021 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_015937
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPL
GLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDL
LDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTL
TITSKGKENKPSYIHYQPAQDRLQPHFLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVA
AKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGG
LAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_001184728
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYH
SQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEV
HPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTH
PYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHFLEMLIQLPANSVTKVSIQFERALLKWTEY
TPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVV
AVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_001184730
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDTDHYFLRYAVLPREVVC
TENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFR
MFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPP
ENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDR
LQPHFLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGS
NYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_001184729
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPL
GLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDL
LDTAMINNSRNLNIQLKWKRPPENGYIHYQPAQDRLQPHFLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVS
PSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLL
TRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

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

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

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_047695
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001922314 CLINVAR
dbSNP (RS) rs778543062 CLINVAR
MedGen C3809356 CLINVAR
NCBI Gene PIGT CLINVAR
OMIM 610272 CLINVAR
  615398 CLINVAR