Genomic variant #0000040480

Individual ID 00019969
Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.30064352del
DNA change (hg38) g.29668363del
Published as -
ISCN -
DB-ID NF2_000010
Variant remarks sporadic
Reference PubMed: Contini 2015, Journal: Contini 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.50 reads
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Laura Papi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF2 NM_000268.3 +?/. 10 c.916del r.(?) p.(Leu306Tyrfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019963 DNA SEQ-NG-I blood - NF2 1 Laura Papi