RGD:21067302 Rat Genome Database

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Variant: RGD:21067302 -  Homo sapiens

RGD ID: 21067302
RS ID: rs183130936
ClinVar ID: CV792129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FMR1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 147,031,110
GRCh38 X 147,949,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001185076.2:c.*746T>C
NM_001185075.2:c.*760T>C
NM_001185082.2:c.*746T>C
NG_007529.2:g.42600T>C
More... 		05/28/2019 3 prime utr variant benign Fra(X) syndrome; Fragile X syndrome, type A; Marker X syndrome; Martin-Bell syndrome; MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28; X-linked mental retardation and macroorchidism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FMR1
Accession:NM_001185081
Location:3UTRS;EXON

Gene Symbol:FMR1
Accession:NM_002024
Location:3UTRS;EXON

Gene Symbol:FMR1
Accession:NM_001185076
Location:3UTRS;EXON

Gene Symbol:FMR1
Accession:NM_001185075
Location:3UTRS;EXON

Gene Symbol:FMR1
Accession:NM_001185082
Location:3UTRS;EXON

Gene Symbol:FMR1
Accession:NR_033699
Location:EXON;NON-CODING

Gene Symbol:FMR1
Accession:NR_033700
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000990958 CLINVAR
  RCV003973001 CLINVAR
dbSNP (RS) rs183130936 CLINVAR
MedGen C0016667 CLINVAR
NCBI Gene FMR1 CLINVAR
OMIM 300624 CLINVAR
  309550 CLINVAR
SNOMED CT 613003 CLINVAR