View genomic variant #0000000904

Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.30035124_30035126del
Published as -
GERP -
Segregation -
DB-ID NF2_000013
MSCV MSCV_0000904
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NF2 00003146 NM_000268.3 0000000904 +/+ c.286_288del p.(Phe96del) - - - - r.(?) -
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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