rs144594971 Rat Genome Database

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Variant: rs144594971 -  Homo sapiens

RGD ID: 15168244
RS ID: rs144594971
ClinVar ID: CV740805
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC3  LOC130060959  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,148,522
GRCh38 17 44,071,154
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001384165.1:c.-216C>T
NM_001384168.1:c.-312+440C>T
NM_001384167.1:c.-341C>T
NM_001384166.1:c.-351C>T
More... 		01/31/2024 5 prime utr variant|non-coding transcript variant benign|likely benign AllHighlyPenetrant; Dursun syndrome; G6PC3-related condition; 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:XM_011525474
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:NM_001384166
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_138387
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLS
RIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERELSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEW
IHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLW
PCLVLALVPWAVHMFSAQEAPPIHSS*

Gene Symbol:G6PC3
Accession:NM_001319945
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARRRCPGLADDSPSAYGAGAKLLW
VDCTGPHARHQPHLLDPLYTGPGSFLVHQPSLQVV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000904813 CLINVAR
  RCV001818777 CLINVAR
  RCV003910810 CLINVAR
dbSNP (RS) rs144594971 CLINVAR
MedGen C2751630 CLINVAR
  CN169374 CLINVAR
NCBI Gene G6PC3 CLINVAR
  LOC130060959 CLINVAR
OMIM 611045 CLINVAR
  612541 CLINVAR