Genomic variant #0000097047

Individual ID 00065218
Chromosome 3
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.183887880delG
DNA change (hg38) g.184170092delG
Published as -
ISCN -
DB-ID DVL3_000003
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DVL3 NM_004423.3 +/. - c.1585delG - r.(?) p.(Ala529Profs*139)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065371 DNA SEQ - - DVL3 1 Pieter Klap