RGD:8561981 Rat Genome Database

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Variant: RGD:8561981 -  Homo sapiens

RGD ID: 8561981
RS ID: rs1569085810
ClinVar ID: CV25909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 14,868,622
GRCh38 X 14,850,500
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
NC_000023.11:g.14850500C>T
NC_000023.10:g.14868622C>T
NM_001018113.1:c.1496+5G>A
LRG_496t1:c.1496+5G>A
More... 		09/10/2013 intron variant pathogenic childhood 1-9 / 1 000 000|1-9 / 100 000 FANCONI PANCYTOPENIA, TYPE 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCB
Accession:XM_017029356
Location:INTRON

Gene Symbol:FANCB
Accession:XM_047441922
Location:INTRON

Gene Symbol:FANCB
Accession:NM_152633
Location:INTRON

Gene Symbol:FANCB
Accession:XM_047441920
Location:INTRON

Gene Symbol:FANCB
Accession:XM_047441921
Location:INTRON

Gene Symbol:FANCB
Accession:NM_001410764
Location:INTRON

Gene Symbol:FANCB
Accession:NM_001324162
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FANCB
Accession:NM_001018113
Location:INTRON

Gene Symbol:FANCB
Accession:XM_047441924
Location:INTRON

Gene Symbol:FANCB
Accession:XM_047441923
Location:INTRON

Gene Symbol:FANCB
Accession:XR_001755674
Location:INTRON;NON-CODING

Gene Symbol:FANCB
Accession:XR_001755672
Location:INTRON;NON-CODING

Gene Symbol:FANCB
Accession:NR_136707
Location:INTRON;NON-CODING

Gene Symbol:FANCB
Accession:XR_001755673
Location:INTRON;NON-CODING

Gene Symbol:FANCB
Accession:XR_007068184
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16679491  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011617 CLINVAR
dbSNP (RS) rs1569085810 CLINVAR
MedGen C1845292 CLINVAR
NCBI Gene FANCB CLINVAR
OMIM 300514 CLINVAR
  300515 CLINVAR
OMIM Allele 300515.0005 CLINVAR