RGD:155981807 Rat Genome Database

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Variant: RGD:155981807 -  Homo sapiens

RGD ID: 155981807
ClinVar ID: CV2244119
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC3  LOC127886984  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,152,738
GRCh38 17 44,075,370
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_182t1:c.596A>T
NM_001384165.1:c.251A>T
NM_001384166.1:c.251A>T
NM_001384167.1:c.251A>T
More... 		10/26/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:G6PC3
Accession:NM_001384168
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFFGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:XM_011525474
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFFGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001384165
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFFGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_138387
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLS
RIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERELSFFGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEW
IHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLW
PCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001384166
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFFGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001319945
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARRRCPGLADDSPSAYGAGAKLLW
VDCTGPHARHQPHLLDPLYTGPGSFLVHQPSLQVV*

Gene Symbol:G6PC3
Accession:NM_001384167
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFFGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002777781 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene G6PC3 CLINVAR
OMIM 611045 CLINVAR