View genomic variant #0000000903

Chromosome 22
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30032866G>T
Published as -
GERP 5.720
Segregation -
DB-ID NF2_000012
dbSNP ID -
Frequency -
Sources ;
Reference -
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.240+1G>T p.? splice_donor_variant - - - r.spl? -


ClinVar @ MSeqDR

18322
MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002
Neurofibromatosis, type 2
HGVS variant names NC 000022.10:g.30032866G>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:607379.0002
Gene symbol:Gene id. NF2:4771
SO:0001575|splice donor variant,SO:0001627|intron variant
1
dbSNP ID 587776562
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
CS930848223003286630032866HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CS941518223003286630032866HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available