View genomic variant #0000000914

Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30077457T>C
Published as -
GERP 6.030
Segregation -
DB-ID NF2_000010 See all 2 reported entries
MSCV MSCV_0000914
dbSNP ID rs74315493
Frequency -
Sources ; clinvar;
Reference 7666400
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 0000000914 +/+ c.1604T>C p.(Leu535Pro) missense_variant - 15/16 probably_damaging(0.992) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000003447;
Chromosome 22:30077457..30077457
ClinVar Allele ID 18325
Disease database name and identifier MedGen:C0027832, OMIM:101000, Orphanet:ORPHA637, SNOMED CT:92503002
ClinVar preferred disease name Neurofibromatosis, type 2
HGVS variant names NC 000022.10:g.30077457T>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:607379.0005|UniProtKB (protein):P35240#VAR 000825
Gene symbol:Gene id. NF2:4771
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 74315493
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

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
rs74315493223007745730077457T/COMIM phenotype variantsNEUROFIBROMATOSIS, TYPE II
rs74315493223007745730077457T/COMIM phenotype variantsNeurofibromatosis, type 2
CM950859223007745730077457HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available