RGD:11654285 Rat Genome Database

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Variant: RGD:11654285 -  Homo sapiens

RGD ID: 11654285
RS ID: rs886056254
ClinVar ID: CV290600
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFPT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 69,552,632
GRCh38 2 69,325,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_787:g.66751A>G
NG_029542.1:g.66751A>G
NC_000002.12:g.69325500T>C
NC_000002.11:g.69552632T>C
More... 		01/13/2018 3 prime utr variant uncertain significance 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_001244710
Location:3UTRS;EXON

Gene Symbol:GFPT1
Accession:NM_002056
Location:3UTRS;EXON

Gene Symbol:GFPT1
Accession:XM_017003802
Location:3UTRS;EXON

Gene Symbol:GFPT1
Accession:XM_017003801
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316165 CLINVAR
dbSNP (RS) rs886056254 CLINVAR
MedGen C3552335 CLINVAR
NCBI Gene GFPT1 CLINVAR
OMIM 138292 CLINVAR
  610542 CLINVAR