Variant #0000532269 (NC_000007.13:g.5568886_5568888del, ACTB(NM_001101.3):c.269_271del)

Chromosome 7
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.5568886_5568888del
DNA change (hg38) g.5529255_5529257del
Published as -
ISCN -
DB-ID ACTB_000054
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license No license selected
Created by VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTB NM_001101.3 ?/. - c.269_271del r.(?) p.(Phe90del)