Genomic variant #0000000904

Chromosome 22
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.30035124_30035126del
Published as -
GERP -
Segregation -
DB-ID NF2_000013
dbSNP ID rs121434260
Frequency -
Sources ; clinvar;
Reference 7913580
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NF2 NM_000268.3 +/+ c.286_288del p.(Phe96del) - - - - r.(?) -


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs121434260223003512430035126TTC/-OMIM phenotype variantsNEUROFIBROMATOSIS, TYPE II
rs121434260223003512430035126TTC/-OMIM phenotype variantsNeurofibromatosis, type 2
CD941738223003512630035126HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available