RGD:28885817 Rat Genome Database

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Variant: RGD:28885817 -  Homo sapiens

RGD ID: 28885817
RS ID: rs375031347
ClinVar ID: CV875450
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FTO  LOC127884007  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 53,738,054
GRCh38 16 53,704,142
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363898.1:c.-43G>A
NM_001363899.1:c.-43G>A
NM_001363900.1:c.-43G>A
NM_001363905.1:c.-735G>A
More... 		01/13/2018 5 prime utr variant uncertain significance GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; Growth retardation, developmental delay, coarse facies, and early death
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FTO
Accession:XM_011523315
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_017023657
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363891
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_017023656
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363897
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363900
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_024450437
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_047434609
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363894
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_047434606
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_011523314
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_017023654
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363898
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363901
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363899
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_047434607
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_047434608
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363896
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363988
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XM_011523316
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363905
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:NM_001363903
Location:5UTRS;EXON

Gene Symbol:FTO
Accession:XR_007064911
Location:EXON;NON-CODING

Gene Symbol:FTO
Accession:NR_156761
Location:EXON;NON-CODING

Gene Symbol:FTO
Accession:NM_001080432
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001119165 CLINVAR
dbSNP (RS) rs375031347 CLINVAR
MedGen C2752001 CLINVAR
NCBI Gene FTO CLINVAR
OMIM 610966 CLINVAR
  612938 CLINVAR