Variant #0000156675 (NC_000022.10:g.30035635_30041669del, NF2(NM_000268.3):c.363+434_447+3395del)

Individual ID 00095820
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.30035635_30041669del
DNA change (hg38) g.29639646_29645680del
Published as -
ISCN -
DB-ID NF2_000031
Variant remarks Mosaic
Reference -
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 Beatrice Parfait
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF2 NM_000268.3 +/+ 3i_4i c.363+434_447+3395del r.(?) p.(Val122_Lys149del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000096220 DNA SEQ-NG blood;tumour - NF2 1 Beatrice Parfait