Variant #0000021275 (NC_000006.11:g.76564988del, MYO6(NM_004999.3):c.1211del)

Individual ID 00003000
Chromosome 6
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
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)     

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