RGD:150554948 Rat Genome Database

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Variant: RGD:150554948 -  Homo sapiens

RGD ID: 150554948
RS ID: rs757351765
ClinVar ID: CV1309938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCM  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 45,628,285
GRCh38 14 45,159,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_502t1:c.1397-14A>T
NM_001308133.2:c.1319-14A>T
NM_001308134.2:c.1397-14A>T
NM_020937.4:c.1397-14A>T
More... 		04/05/2022 intron variant likely benign|uncertain significance Fanconi pancytopenia; Fanconi's anemia; none provided; Premature ovarian failure 15
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCM
Accession:XM_011537035
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431631
Location:INTRON

Gene Symbol:FANCM
Accession:NM_001308133
Location:INTRON

Gene Symbol:FANCM
Accession:XM_011537037
Location:INTRON

Gene Symbol:FANCM
Accession:XM_011537034
Location:INTRON

Gene Symbol:FANCM
Accession:XM_017021523
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431632
Location:INTRON

Gene Symbol:FANCM
Accession:NM_001308134
Location:INTRON

Gene Symbol:FANCM
Accession:NM_020937
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431633
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431634
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002506810 CLINVAR
  RCV002540743 CLINVAR
  RCV003237677 CLINVAR
dbSNP (RS) rs757351765 CLINVAR
MedGen C0015625 CLINVAR
  C3661900 CLINVAR
  C4748117 CLINVAR
NCBI Gene FANCM CLINVAR
OMIM 227650 CLINVAR
  609644 CLINVAR
  618086 CLINVAR
  618096 CLINVAR
SNOMED CT 30575002 CLINVAR