Variant #0000366971 (NC_000006.11:g.76550301G>A, MYO6(NM_004999.3):c.554-1G>A)

Individual ID 00163060
Chromosome 6
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76550301G>A
DNA change (hg38) g.75840584G>A
Published as splice mutation
ISCN -
DB-ID MYO6_000020 See all 6 reported entries
Variant remarks Heterozygous
Reference PubMed: Volk et al., 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/180 controls
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne-Françoise Roux
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +/+ 6i c.554-1G>A r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163925 DNA SEQ - - MYO6 1 Anne-Françoise Roux