Genomic variant #0000367011

Individual ID 00163099
Chromosome 6
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.76593856T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID MYO6_000006 See all 2 reported entries
Variant remarks Heterozygous
Reference PubMed: Hilgert et al., 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/278 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)     

ClassClinical     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +/+ 23i c.IVS23+2321T>G pathogenic r.[=,2286_2287insNG_009934.1:g.139947_140054] p.(Phe763Trpfs*6) Motor domain (57-771)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163964 DNA SEQ - - MYO6 1 Anne-Françoise Roux