Variant #0000156681 (NC_000022.10:g.30051658C>T, NF2(NM_000268.3):c.592C>T)

Individual ID 00095826
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.30051658C>T
DNA change (hg38) g.29655669C>T
Published as -
ISCN -
DB-ID NF2_000016 See all 9 reported entries
Variant remarks CpG dinucleotide ; Mosaic
Reference PubMed: Ahronowitz 2007
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 +/+ 6 c.592C>T r.592c>u p.Arg198*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000096226 DNA SEQ-NG blood;tumour - NF2 1 Beatrice Parfait