Variant #0000763362 (NC_000001.10:g.47882366_47884746del)

Individual ID 00361745
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47882366_47884746del
DNA change (hg38) -
Published as -
ISCN -
DB-ID chr1_014245
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Davor Lessel
Database submission license No license selected
Created by Davor Lessel
Options




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

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Technique     

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Genes screened     

Variants found     

Owner     
0000362973 DNA SEQ-NG - - - 1 Davor Lessel