View genomic variant #0000000911

Chromosome 22
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30070871G>A
Published as -
GERP 5.600
Segregation -
DB-ID NF2_000007
dbSNP ID rs74315503
Frequency -
Sources ; clinvar;
Reference 7913580
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.0007 View details
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.1387G>A p.(Glu463Lys) missense_variant - 13/16 possibly_damaging(0.713) r.(?) tolerated(0.48)


ClinVar @ MSeqDR

0.0007
0.00038
0.0002
243699
MedGen:C0027672,SNOMED CT:699346009|MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002
Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 2
HGVS variant names NC 000022.10:g.30070871G>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
UniProtKB (protein):P35240#VAR 035848
Gene symbol:Gene id. NF2:4771
SO:0001583|missense variant,SO:0001627|intron variant
1
dbSNP ID 74315503
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

18333
MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002
Neurofibromatosis, type 2
HGVS variant names NC 000022.10:g.30070871G>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:607379.0013
Gene symbol:Gene id. NF2:4771
SO:0001587|nonsense,SO:0001627|intron variant
1
dbSNP ID 74315503
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
rs74315503223007087130070871G/T/AOMIM phenotype variantsNEUROFIBROMATOSIS, TYPE II
rs74315503223007087130070871G/T/AOMIM phenotype variantsNeurofibromatosis, type 2
CM941105223007087130070871HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available