Genomic variant #0000533725

Chromosome 8
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.12286233_12286236del
DNA change (hg38) g.12428724_12428727del
Published as FAM86B2(NM_001137610.2):c.650_653delACAG (p.D217Afs*4)
ISCN -
DB-ID FAM86B2_000002
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAM86B2 NM_001137610.1 ?/. - c.650_653del r.(?) p.(Asp217AlafsTer4)