Genomic variant #0000097056

Individual ID 00065233
Chromosome 2
Allele Both (homozygous)
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.220290383A>G
DNA change (hg38) g.219425661A>G
Published as -
ISCN -
DB-ID DES_000068 See all 5 reported entries
Variant remarks unclear whether effect on RNA/protein was predicted or experimentally determined
Reference Balci-Hayta ESHG2016 P10.21
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 Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DES NM_001927.3 +/. 7i c.1289-2A>G r.(1288_1289ins1289-48_1289-3insgg) p.(Glu430delins17)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065385 DNA SEQ - - DES 1 Johan den Dunnen