RGD:14978522 Rat Genome Database

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Variant: RGD:14978522 -  Homo sapiens

RGD ID: 14978522
RS ID: rs1597675888
ClinVar ID: CV677478
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPL13  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,628,800
GRCh38 16 89,562,392
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243131.1:c.336+1G>A
NC_000016.9:g.89628800G>A
NM_033251.2:c.477+1G>A
NC_000016.10:g.89562392G>A
More... 		06/27/2023 splice donor variant pathogenic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RPL13
Accession:NM_001243131
Location:INTRON

Gene Symbol:RPL13
Accession:NM_033251
Location:INTRON

Gene Symbol:RPL13
Accession:NM_000977
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23956136   PMID:25741868   PMID:31630789  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000850627 CLINVAR
  RCV000991038 CLINVAR
dbSNP (RS) rs1597675888 CLINVAR
MedGen C0432211 CLINVAR
  C5231478 CLINVAR
NCBI Gene RPL13 CLINVAR
OMIM 113703 CLINVAR
  618728 CLINVAR
OMIM Allele 113703.0003 CLINVAR