Variant #0000680680 (NC_000016.9:g.84182726A>G, DNAAF1(NM_178452.4):c.239A>G)

Chromosome 16
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.84182726A>G
DNA change (hg38) -
Published as DNAAF1(NM_178452.5):c.239A>G (p.D80G)
ISCN -
DB-ID DNAAF1_000045
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     
TAF1C NM_005679.3 ?/. - c.*29821T>C r.(=) p.(=)
HSDL1 NM_031463.4 ?/. - c.-4110T>C r.(?) p.(=)
DNAAF1 NM_178452.4 ?/. - c.239A>G r.(?) p.(Asp80Gly)