All transcript variants in gene MECR

Information The variants shown are described using the NM_016011.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. - c.830+2dup pathogenic (recessive) r.spl p.? g.29527026dup - 830+2dupT - MECR_000004 - PubMed: Fresard 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.830+2dup pathogenic (recessive) r.[830_831ins[guu;830+3_831-1],757_830del] p.[Arg278fs,Asp253fs] g.29527026dup - 830+2InsT - MECR_000004 - PubMed: Heimer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.830+2dup pathogenic (recessive) r.spl p.? g.29527026dup - 830+2InsT - MECR_000004 - PubMed: Heimer 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.830+2dup pathogenic (recessive) r.spl p.? g.29527026dup - 830+2InsT - MECR_000004 - PubMed: Heimer 2016 - - Germline yes - - 0 - Johan den Dunnen
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