rs561313644 Rat Genome Database

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Variant: rs561313644 -  Homo sapiens

RGD ID: 38472769
RS ID: rs561313644
ClinVar ID: CV949969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC3  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 42,152,351
GRCh38 17 44,074,983
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001384166.1:c.86T>A
NP_612396.1:p.Val144Glu
NP_001371094.1:p.Val29Glu
NP_001371095.1:p.Val29Glu
More... 		09/01/2022 intron variant uncertain significance Dursun syndrome; PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT; Severe congenital neutropenia 4, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:G6PC3
Accession:NM_138387
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARSRWVREMPSLAYCTFLLAVGLS
RIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERELSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEW
IHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLW
PCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001384168
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVREMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001384165
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVREMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001384167
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVREMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:XM_011525474
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVREMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001384166
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITGAALWPIMTALSSQVATRARSRWVREMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERE
LSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRR
AQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001319945
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001231632 CLINVAR
dbSNP (RS) rs561313644 CLINVAR
MedGen C2751630 CLINVAR
NCBI Gene G6PC3 CLINVAR
OMIM 611045 CLINVAR
  612541 CLINVAR