Variant #0000610519 (NC_000006.11:g.76576781G>A, MYO6(NM_004999.3):c.1903G>A)

Chromosome 6
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.76576781G>A
DNA change (hg38) g.75867064G>A
Published as -
ISCN -
DB-ID MYO6_000093
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
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.1903G>A r.(?) p.(Ala635Thr) -