RGD:15135668 Rat Genome Database

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Variant: RGD:15135668 -  Homo sapiens

RGD ID: 15135668
RS ID: rs778438842
ClinVar ID: CV695166
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TFG  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 100,438,810
GRCh38 3 100,719,966
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195478.2:c.185-9A>T
NM_001007565.2:c.185-9A>T
NM_006070.6:c.185-9A>T
NG_027821.2:g.15677A>T
More... 		01/16/2019 intron variant likely benign HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE; Hereditary spastic paraplegia 57; Spastic paraplegia 57, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TFG
Accession:XM_005247066
Location:INTRON

Gene Symbol:TFG
Accession:XM_047447244
Location:INTRON

Gene Symbol:TFG
Accession:XM_047447242
Location:INTRON

Gene Symbol:TFG
Accession:NM_006070
Location:INTRON

Gene Symbol:TFG
Accession:NM_001007565
Location:INTRON

Gene Symbol:TFG
Accession:XM_011512334
Location:INTRON

Gene Symbol:TFG
Accession:XM_047447243
Location:INTRON

Gene Symbol:TFG
Accession:NM_001195479
Location:INTRON

Gene Symbol:TFG
Accession:NM_001195478
Location:INTRON

Gene Symbol:TFG
Accession:XM_047447241
Location:INTRON

Gene Symbol:TFG
Accession:XM_006713472
Location:INTRON

Gene Symbol:TFG
Accession:XM_017005527
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000876685 CLINVAR
dbSNP (RS) rs778438842 CLINVAR
MedGen C1858338 CLINVAR
NCBI Gene TFG CLINVAR
OMIM 602498 CLINVAR
  604484 CLINVAR
  615658 CLINVAR