Genomic variant #0000439829

Individual ID 00208600
Chromosome 6
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.43013368C>T
DNA change (hg38) g.43045630C>T
Published as -
ISCN -
DB-ID CUL7_000020
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs201130952
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner Xiang Jiao
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CUL7 NM_014780.4 ?/. - c.2819G>A r.(?) p.(Arg940His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209649 DNA SEQ-NG-I Blood - - 12 Xiang Jiao