Genomic variant #0000367012

Individual ID 00163100
Chromosome 6
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.76595777C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID MYO6_000012
Variant remarks Heterozygous
Reference PubMed: Kwon et al., 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/200 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 +/+ 24 c.2473C>T pathogenic r.(?) p.(Arg825*) IQ (814-834)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163965 DNA SEQ - - MYO6 1 Anne-Françoise Roux