RGD:11093833 Rat Genome Database

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Variant: RGD:11093833 -  Homo sapiens

RGD ID: 11093833
RS ID: rs143053584
ClinVar ID: CV231087
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLPP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 6,364,455
GRCh38 19 6,364,444
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006012.4:c.368-8G>A
NG_033887.1:g.7993G>A
NC_000019.10:g.6364444G>A
NC_000019.9:g.6364455G>A
More... 		06/26/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CLPP
Accession:XM_047439486
Location:INTRON

Gene Symbol:CLPP
Accession:NM_006012
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000220278 CLINVAR
  RCV000676995 CLINVAR
  RCV003937801 CLINVAR
dbSNP (RS) rs143053584 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CLPP CLINVAR
OMIM 601119 CLINVAR