Unique variants in the RMRP gene

Information The variants shown are described using the NR_003051.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/+? 1 - n.-22_-13dupTACTCTGTGA r.? - - likely pathogenic g.35658028_35658037dup g.35658031_35658040dup dupTACTCTGTGA at -13; g.-23_-14dupTACTCTGTGA - RMRP_000004 2 Finnish CHH families (com-het) and 1 French CHH family (com-het) PubMed: Ridanpää et al. 2002, PubMed: Bonafe et al. 2005 - - SUMMARY record yes 0/280 CON - - - Anne Polvi
+/+ 1 - n.71A>G r.71a>g - - pathogenic g.35657945T>C g.35657948T>C 70A>G - RMRP_000005 1 more item 1 more item - - SUMMARY record yes 10/845 FIN CON - - - Anne Polvi
+?/+? 1 - n.155G>T r.155g>u - - likely pathogenic g.35657861C>A g.35657864C>A 154T - RMRP_000006 1 Finnish CHH family (com-het) PubMed: Ridanpää et al. 2002 - - SUMMARY record yes 0/280 CON - - - Anne Polvi
+?/+? 1 - n.212C>G r.212c>g - - likely pathogenic g.35657804G>C g.35657807G>C C211G - RMRP_000007 1 Finnish, 1 American and 1 Polish CHH family and 1 German CHH patient (all com-het) PubMed: Ridanpää et al. 2002, PubMed: Hermanns el al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 - n.263G>T r.263g>u - - likely pathogenic g.35657753C>A g.35657756C>A 262G>T - RMRP_000008 13 Finnish CHH families (com-het) PubMed: Ridanpää et al. 2001, PubMed: Ridanpää et al. 2002 - - SUMMARY record yes 0/280 CON - - - Anne Polvi
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Gene encodes RNA component of mitochondrial RNA processing endoribonuclease, no protein of this gene is produced