RGD:597710471 Rat Genome Database

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Variant: RGD:597710471 -  Homo sapiens

RGD ID: 597710471
ClinVar ID: CV3573664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP002490.1  LOC126861257  NUMA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 71,729,524
GRCh38 11 72,018,478
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001286561.2:c.778C>T
NM_006185.4:c.778C>T
NG_085756.1:g.730G>A
NC_000011.10:g.72018478G>A
More... 		09/24/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004840794 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AP002490.1 CLINVAR
  LOC126861257 CLINVAR
  NUMA1 CLINVAR
OMIM 164009 CLINVAR