Variant #0000325759 (NC_000017.10:g.79031787_79031789del, AATK(NM_004920.2):c.*60426_*60428del)

Chromosome 17
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.79031787_79031789del
DNA change (hg38) g.81057987_81057989del
Published as BAIAP2(NM_001144888.1):c.217+7_217+9del (p.(=))
ISCN -
DB-ID AATK_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BAIAP2 NM_001144888.1 -?/. - c.217+20_217+22del r.(=) p.(=)
AATK NM_004920.2 -?/. - c.*60426_*60428del r.(=) p.(=)