Variant #0000089949 (NC_000006.11:g.76532544A>G, MYO6(NM_004999.3):c.163A>G)

Individual ID 00059163
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.76532544A>G
DNA change (hg38) g.75822827A>G
Published as -
ISCN -
DB-ID MYO6_000033
Variant remarks -
Reference PubMed: Sommen 2016, Journal: Sommen 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Manou Sommen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 ?/. 3 c.163A>G r.(?) p.(Ser55Gly) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000059140 DNA SEQ;SEQ-NG-I - - MYO6 2 Manou Sommen