Genomic variant #0000097050

Individual ID 00065222
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.183888106G>A
DNA change (hg38) g.184170318G>A
Published as -
ISCN -
DB-ID DVL3_000004
Variant remarks -
Reference PubMed: White 2016, Journal: White 2016
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Pieter Klap




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DVL3 NM_004423.3 +/. - c.1715-1G>A - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065375 DNA SEQ - - DVL3 1 Pieter Klap