RGD:13809973 Rat Genome Database

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Variant: RGD:13809973 -  Homo sapiens

RGD ID: 13809973
RS ID: rs773938335
ClinVar ID: CV560706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 35,430,694
GRCh38 6 35,462,917
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021922.2:c.1509+3G>A
LRG_498t1:c.1509+3G>A
NC_000006.11:g.35430694G>A
LRG_498:g.15557G>A
More... 		04/05/2018 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCE
Accession:NM_021922
Location:INTRON

Gene Symbol:FANCE
Accession:XM_005248887
Location:INTRON

Gene Symbol:FANCE
Accession:XM_005248885
Location:INTRON

Gene Symbol:FANCE
Accession:XM_005248886
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FANCE
Accession:XM_011514343
Location:INTRON

Gene Symbol:FANCE
Accession:XM_047418300
Location:INTRON

Gene Symbol:FANCE
Accession:XM_047418303
Location:INTRON

Gene Symbol:FANCE
Accession:XM_047418301
Location:INTRON

Gene Symbol:FANCE
Accession:XM_047418302
Location:INTRON

Gene Symbol:FANCE
Accession:NM_001410876
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000702371 CLINVAR
dbSNP (RS) rs773938335 CLINVAR
MedGen C3160739 CLINVAR
NCBI Gene FANCE CLINVAR
OMIM 600901 CLINVAR
  613976 CLINVAR