Variant #0000341248 (NC_000006.11:g.76550332C>A, MYO6(NM_004999.3):c.584C>A)

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.76550332C>A
DNA change (hg38) g.75840615C>A
Published as -
ISCN -
DB-ID MYO6_000038 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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