RGD:407572826 Rat Genome Database

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Variant: RGD:407572826 -  Homo sapiens

RGD ID: 407572826
ClinVar ID: CV3497036
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: QRICH1  
Reference Nucleotide: TGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATT
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 3 49,095,005 - 49,095,053
GRCh38 3 49,057,572 - 49,057,620
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001320580.2:c.582_629del
NM_001320581.2:c.582_629del
NC_000003.11:g.49095010_49095057del
NP_001307509.1:p.Ala197_Gln212del
More... 		08/21/2024 inframe_deletion uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3497036HumanVERVERI-BRADY SYNDROME  IAGP 8554872ClinVar Annotator: match by term: Ververi-Brady syndromeClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004698904 CLINVAR
MedGen C4693824 CLINVAR
NCBI Gene QRICH1 CLINVAR
OMIM 617387 CLINVAR
  617982 CLINVAR