Genomic variant #0000528917

Chromosome 6
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.43197154T>C
DNA change (hg38) -
Published as DNPH1(NM_006443.2):c.41A>G (p.(Glu14Gly))
ISCN -
DB-ID CUL9_000010
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CUL9 NM_015089.2 -?/. - c.*4971T>C likely benign r.(=) p.(=)