RGD:407465762 Rat Genome Database

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Variant: RGD:407465762 -  Homo sapiens

RGD ID: 407465762
ClinVar ID: CV3426769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEFB4A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 7,752,283
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004942.4:c.49C>T
NG_023301.1:g.5085C>T
NC_000008.11:g.7894761C>T
NC_000008.10:g.7752283C>T
More... 		06/04/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004613790 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DEFB4A CLINVAR
OMIM 602215 CLINVAR