Variant #0000021271 (NC_000006.11:g.76570813G>T, MYO6(NM_004999.3):c.1546+1G>T)

Individual ID 00002997
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.76570813G>T
DNA change (hg38) g.75861096G>T
Published as -
ISCN -
DB-ID MYO6_000030 See all 3 reported entries
Variant remarks -
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 +?/? 15i c.1546+1G>T r.spl p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002903 DNA SEQ - - MYO6 1 Marcel Nelen