RGD:405242460 Rat Genome Database

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Variant: RGD:405242460 -  Homo sapiens

RGD ID: 405242460
ClinVar ID: CV3173333
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 89,809,309
GRCh38 16 89,742,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_495t1:c.3664C>G
NM_000135.4:c.3664C>G
NM_001286167.3:c.3664C>G
LRG_495:g.78757C>G
More... 		11/18/2023 missense variant uncertain significance Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003867618 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCA CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
SNOMED CT 30575002 CLINVAR