Variant #0000128972 (NC_000006.11:g.76550332C>A, MYO6(NM_004999.3):c.584C>A)

Individual ID 00080015
Chromosome 6
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76550332C>A
DNA change (hg38) g.75840615C>A
Published as -
ISCN -
DB-ID MYO6_000038 See all 2 reported entries
Variant remarks -
Reference PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017
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 Mieke Wesdorp
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +?/. 8 c.584C>A r.(?) p.(Ala195Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080093 DNA SEQ-NG - - - 1 Mieke Wesdorp