RGD:401924203 Rat Genome Database

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Variant: RGD:401924203 -  Homo sapiens

RGD ID: 401924203
ClinVar ID: CV2801004
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: DIAPH1  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 5 140,954,665
GRCh38 5 141,575,098
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1117t1:c.1484del
LRG_1117t2:c.1511del
NM_001079812.3:c.1484del
NM_001314007.2:c.1511del
More... 		07/13/2023 frameshift variant likely pathogenic DIAPH1-related condition

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV003404593 CLINVAR
NCBI Gene DIAPH1 CLINVAR
OMIM 602121 CLINVAR