Variant #0000528916 (NC_000006.11:g.43193580C>T, CUL9(NM_015089.2):c.*1397C>T)

Chromosome 6
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.43193580C>T
DNA change (hg38) g.43225842C>T
Published as DNPH1(NM_006443.2):c.416G>A (p.(Arg139Gln))
ISCN -
DB-ID CUL9_000009
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CUL9 NM_015089.2 -?/. - c.*1397C>T r.(=) p.(=)