Genomic variant #0000487531

Individual ID 00240410
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29527026dup
DNA change (hg38) -
Published as 830+2InsT
ISCN -
DB-ID MECR_000004 See all 4 reported entries
Variant remarks -
Reference PubMed: Heimer 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MECR NM_016011.2 +/. - c.830+2dup pathogenic (recessive) r.[830_831ins[guu;830+3_831-1],757_830del] p.[Arg278fs,Asp253fs]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241520 DNA;RNA RT-PCR;SEQ;SEQ-NG - WES MECR 2 Johan den Dunnen