RGD:11586852 Rat Genome Database

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Variant: RGD:11586852 -  Homo sapiens

RGD ID: 11586852
RS ID: rs200631666
ClinVar ID: CV290238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFPT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 69,597,128
GRCh38 2 69,369,996
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_787t1:c.223+5C>T
LRG_787:g.22255C>T
NG_029542.1:g.22255C>T
NC_000002.12:g.69369996G>A
More... 		12/31/2019 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; Myasthenia, congenital, 12, with tubular aggregates; MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GFPT1
Accession:NM_001244710
Location:INTRON

Gene Symbol:GFPT1
Accession:XM_017003802
Location:INTRON

Gene Symbol:GFPT1
Accession:NM_002056
Location:INTRON

Gene Symbol:GFPT1
Accession:XM_017003801
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518558 CLINVAR
  RCV000874644 CLINVAR
  RCV003884496 CLINVAR
dbSNP (RS) rs200631666 CLINVAR
MedGen C3552335 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GFPT1 CLINVAR
OMIM 138292 CLINVAR
  610542 CLINVAR