RGD:404978193 Rat Genome Database

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Variant: RGD:404978193 -  Homo sapiens

RGD ID: 404978193
ClinVar ID: CV3127308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC3  LOC130060959  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 42,148,504
GRCh38 17 44,071,136
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_182t1:c.171G>A
NM_001384165.1:c.-234G>A
NM_001384168.1:c.-312+422G>A
NM_001384167.1:c.-359G>A
More... 		09/17/2023 5 prime utr variant likely benign 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_001384165
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:NM_001384166
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:XM_011525474
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:NM_001384167
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:NM_001384168
Location:5UTRS;INTRON

Gene Symbol:G6PC3
Accession:NM_001319945
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARRRCPGLADDSPSAYGAGAKLLW
VDCTGPHARHQPHLLDPLYTGPGSFLVHQPSLQVV*

Gene Symbol:G6PC3
Accession:NM_138387
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLS
RIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERELSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEW
IHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLW
PCLVLALVPWAVHMFSAQEAPPIHSS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003825532 CLINVAR
MedGen C2751630 CLINVAR
NCBI Gene G6PC3 CLINVAR
  LOC130060959 CLINVAR
OMIM 611045 CLINVAR
  612541 CLINVAR