RGD:597785143 Rat Genome Database

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Variant: RGD:597785143 -  Homo sapiens

RGD ID: 597785143
ClinVar ID: CV3586016
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127814297  LOC129994940  RBM27  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 145,583,373
GRCh38 5 146,203,810
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NP_001401428.1:p.Lys15Asn
NP_061862.1:p.Lys15Asn
NM_001414499.1:c.45G>C
NM_018989.2:c.45G>C
More... 		11/20/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004854655 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC127814297 CLINVAR
  LOC129994940 CLINVAR
  RBM27 CLINVAR
OMIM 620082 CLINVAR