Genomic variant #0000021275

Individual ID 00003000
Chromosome 6
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.76564988del
DNA change (hg38) g.75855271del
Published as -
ISCN -
DB-ID MYO6_000031 See all 2 reported entries
Variant remarks MYO6 mutation explains phenotype, better than CHD23 mutations, segregation analysis needed
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marcel Nelen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +?/? 12 c.1211del - r.(?) p.(Gly404fs) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002906 DNA SEQ - - CDH23 3 Marcel Nelen