RGD:152175583 Rat Genome Database

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Variant: RGD:152175583 -  Homo sapiens

RGD ID: 152175583
RS ID: rs567206367
ClinVar ID: CV1526937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 45,652,973
GRCh38 14 45,183,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308133.2:c.4309-4A>G
NM_020937.4:c.4387-4A>G
LRG_502:g.52838A>G
NG_007417.1:g.52838A>G
More... 		06/02/2021 intron variant likely benign Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCM
Accession:XM_017021523
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431633
Location:INTRON

Gene Symbol:FANCM
Accession:XM_011537035
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431632
Location:INTRON

Gene Symbol:FANCM
Accession:NM_001308133
Location:INTRON

Gene Symbol:FANCM
Accession:NM_020937
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431631
Location:INTRON

Gene Symbol:FANCM
Accession:XM_011537034
Location:INTRON

Gene Symbol:FANCM
Accession:NM_001308134
Location:INTRON

Gene Symbol:FANCM
Accession:XM_011537037
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431634
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002163719 CLINVAR
dbSNP (RS) rs567206367 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCM CLINVAR
OMIM 227650 CLINVAR
  609644 CLINVAR
SNOMED CT 30575002 CLINVAR