Genomic variant #0000097053

Individual ID 00065230
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.183888141del
DNA change (hg38) g.184170353del
Published as -
ISCN -
DB-ID DVL3_000001
Variant remarks -
Reference PubMed: White 2016, Journal: White 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Pieter Klap
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DVL3 NM_004423.3 +/. - c.1749del r.(?) p.(Ser583Argfs*85)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065382 DNA SEQ - - DVL3 1 Pieter Klap