Genomic variant #0000487527

Individual ID 00240413
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29522747T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID MECR_000007
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.854A>G pathogenic (recessive) r.(?) p.(Tyr285Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241523 DNA SEQ;SEQ-NG - WES MECR 1 Johan den Dunnen