View genomic variant #0000000910

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.30069354C>T
Published as -
GERP 6.060
Segregation -
DB-ID NF2_000006 See all 2 reported entries
MSCV MSCV_0000910
dbSNP ID rs74315501
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.
Legend  

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 0000000910 +/+ c.1219C>T p.(Gln407*) stop_gained - 12/16 - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000003454;
Chromosome 22:30069354..30069354
ClinVar Allele ID 18332
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.30069354C>T
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:607379.0012
Gene symbol:Gene id. NF2:4771
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 74315501
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
rs74315501223006935430069354C/TOMIM phenotype variantsNEUROFIBROMATOSIS, TYPE II
rs74315501223006935430069354C/TOMIM phenotype variantsNeurofibromatosis, type 2
CM941104223006935430069354HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available