RGD:13529933 Rat Genome Database

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Variant: RGD:13529933 -  Homo sapiens

RGD ID: 13529933
RS ID: rs754593037
ClinVar ID: CV500249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFPT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 69,581,606
GRCh38 2 69,354,474
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.69354474T>C
NG_029542.1:g.37777A>G
NC_000002.11:g.69581606T>C
LRG_787:g.37777A>G
More... 		06/16/2017 intron variant likely benign AllHighlyPenetrant; Myasthenia, congenital, 12, with tubular aggregates; MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GFPT1
Accession:NM_002056
Location:INTRON

Gene Symbol:GFPT1
Accession:XM_017003801
Location:INTRON

Gene Symbol:GFPT1
Accession:XM_017003802
Location:INTRON

Gene Symbol:GFPT1
Accession:NM_001244710
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000600495 CLINVAR
  RCV003530089 CLINVAR
dbSNP (RS) rs754593037 CLINVAR
MedGen C3552335 CLINVAR
  CN169374 CLINVAR
NCBI Gene GFPT1 CLINVAR
OMIM 138292 CLINVAR
  610542 CLINVAR