Variant #0000089792 (NC_000006.11:g.76568710_76568712del3insC, MYO6(NM_004999.3):c.1473_1475delinsC)

Individual ID 00059028
Chromosome 6
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76568710_76568712del3insC
DNA change (hg38) -
Published as 1473_1475del3insC
ISCN -
DB-ID MYO6_000032
Variant remarks 0/299 controls
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/177 patients
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Zippi Brownstein
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +/. 14 c.1473_1475delinsC r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058993 DNA SEQ-NG-I blood - - 1 Zippi Brownstein