Genomic variant #0000629429

Individual ID 00274269
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.28146963C>T
DNA change (hg38) g.27750975C>T
Published as -
ISCN -
DB-ID MN1_000013 See all 3 reported entries
Variant remarks -
Reference PubMed: Mak 2019
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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     
MN1 NM_002430.2 +/. 2 c.3903G>A pathogenic (dominant) r.(?) p.(Trp1301*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275425 DNA SEQ;SEQ-NG - WES MN1 1 Johan den Dunnen