Genomic variant #0000487518

Individual ID 00240406
Chromosome 1
Allele Parent #1
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+2dupT
ISCN -
DB-ID MECR_000004 See all 4 reported entries
Variant remarks -
Reference PubMed: Fresard 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




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.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241516 DNA;RNA RT-PCR;SEQ;SEQ-NG - - MECR 2 Johan den Dunnen