rs1046564488 Rat Genome Database

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Variant: rs1046564488 -  Homo sapiens

RGD ID: 153001082
RS ID: rs1046564488
ClinVar ID: CV1684366
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC127820637  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 22,647,356
GRCh38 11 22,625,810
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_527t1:c.1A>C
NC_000011.10:g.22625810T>G
NC_000011.9:g.22647356T>G
NM_022725.3:c.1A>C
More... 		05/27/2021 initiatior codon variant|initiator_codon_variant likely pathogenic Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002255797 CLINVAR
dbSNP (RS) rs1046564488 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 227650 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR