RGD:11650930 Rat Genome Database

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Variant: RGD:11650930 -  Homo sapiens

RGD ID: 11650930
RS ID: rs886050216
ClinVar ID: CV336491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FREM2  
Reference Nucleotide: -
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 39,460,539
GRCh38 13 38,886,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008125.2:g.204367_204368insG
NC_000013.11:g.38886402_38886403insG
NC_000013.10:g.39460539_39460540insG
NM_207361.4:c.*5615_*5616insG
More... 		06/14/2016 3 prime utr variant uncertain significance antenatal 1-9 / 1 000 000 Cryptophthalmos with other malformations
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FREM2
Accession:NM_207361
Location:3UTRS;EXON

Gene Symbol:FREM2
Accession:XM_017020554
Location:INTRON

Gene Symbol:FREM2
Accession:XR_941571
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000296053 CLINVAR
dbSNP (RS) rs886050216 CLINVAR
MedGen C4551480 CLINVAR
NCBI Gene FREM2 CLINVAR
OMIM 219000 CLINVAR
  608945 CLINVAR