Variant #0000366994 (NC_000006.11:g.76554694G>T, MYO6(NM_004999.3):c.897G>T)

Individual ID 00163083
Chromosome 6
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.76554694G>T
DNA change (hg38) g.75844977G>T
Published as splice mutation
ISCN -
DB-ID MYO6_000010 See all 5 reported entries
Variant remarks Heterozygous
Reference PubMed: Brownstein 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)     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +?/? 10 c.897G>T r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163948 DNA SEQ - - MYO6 1 Anne-Françoise Roux