RGD:28883039 Rat Genome Database

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Variant: RGD:28883039 -  Homo sapiens

RGD ID: 28883039
RS ID: rs1670478208
ClinVar ID: CV885363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFPT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 69,551,304
GRCh38 2 69,324,172
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029542.1:g.68079A>G
NC_000002.12:g.69324172T>C
NC_000002.11:g.69551304T>C
NM_001244710.2:c.*2017A>G
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:XM_017003801
Location:3UTRS;EXON

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

Gene Symbol:GFPT1
Accession:NM_001244710
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001136806 CLINVAR
dbSNP (RS) rs1670478208 CLINVAR
MedGen C3552335 CLINVAR
NCBI Gene GFPT1 CLINVAR
OMIM 138292 CLINVAR
  610542 CLINVAR