RGD:401888921 Rat Genome Database

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Variant: RGD:401888921 -  Homo sapiens

RGD ID: 401888921
ClinVar ID: CV2753580
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: RECQL  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 12 21,643,224
GRCh38 12 21,490,290
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_002907.4:c.304del
NM_032941.3:c.304del
NC_000012.12:g.21490289del
NC_000012.11:g.21643223del
More... 		09/12/2023 nonsense uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004334192 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RECQL CLINVAR
OMIM 600537 CLINVAR