RGD:11592739 Rat Genome Database

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Variant: RGD:11592739 -  Homo sapiens

RGD ID: 11592739
RS ID: rs6743966
ClinVar ID: CV289659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCFD2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 47,130,527
GRCh38 2 46,903,388
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
LRG_566t1:c.*2075C>T
LRG_566t2:c.*2075C>T
LRG_566t3:c.*2075C>T
LRG_566t4:c.*2075C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign all ages 1-9 / 1 000 000 Factor v and factor viii, combined deficiency of, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCFD2
Accession:NM_139279
Location:3UTRS;EXON

Gene Symbol:MCFD2
Accession:NM_001171508
Location:3UTRS;EXON

Gene Symbol:MCFD2
Accession:NM_001171506
Location:3UTRS;EXON

Gene Symbol:MCFD2
Accession:NM_001171507
Location:3UTRS;EXON

Gene Symbol:MCFD2
Accession:NM_001171510
Location:3UTRS;EXON

Gene Symbol:MCFD2
Accession:NM_001171511
Location:3UTRS;EXON

Gene Symbol:MCFD2
Accession:NM_001171509
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000342025 CLINVAR
dbSNP (RS) rs6743966 CLINVAR
MedGen C3150889 CLINVAR
NCBI Gene MCFD2 CLINVAR
OMIM 607788 CLINVAR
  613625 CLINVAR