Variant #0000692513 (NC_000017.10:g.79093773C>T, AATK(NM_004920.2):c.3537G>A)

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.79093773C>T
DNA change (hg38) -
Published as AATK(NM_001080395.2):c.3846G>A (p.Q1282=)
ISCN -
DB-ID AATK_000013
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) 5.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BAIAP2 NM_001144888.1 -?/. - c.*4134C>T r.(=) p.(=)
AATK NM_004920.2 -?/. - c.3537G>A r.(?) p.(Gln1179=)