RGD:155803141 Rat Genome Database

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Variant: RGD:155803141 -  Homo sapiens

RGD ID: 155803141
ClinVar ID: CV1857960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGT  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 44,049,193
GRCh38 20 45,420,553
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.587C>G
NM_001184728.3:c.725C>G
NM_001184729.3:c.893C>G
NM_015937.6:c.893C>G
More... 		05/16/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PIGT
Accession:NM_001184730
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDTDHYFLRYAVLPREVVC
TENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFR
MFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHRPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPP
ENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDR
LQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGS
NYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_001184728
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYH
SQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEV
HRPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTH
PYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEY
TPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVV
AVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_001184729
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPL
GLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHRPPTTTYQDVILGTRKTYAIYDL
LDTAMINNSRNLNIQLKWKRPPENGYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVS
PSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLL
TRTFHIEEPRTGGLAKRLANLIRRARGVPPL*

Gene Symbol:PIGT
Accession:NM_015937
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKY
SLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPL
GLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHRPPTTTYQDVILGTRKTYAIYDL
LDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTL
TITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVA
AKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGG
LAKRLANLIRRARGVPPL*

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

Gene Symbol:PIGT
Accession:NR_047693
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_047691
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002461810 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PIGT CLINVAR
OMIM 610272 CLINVAR