Genomic variant #0000002975

Chromosome 22
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30064406C>T
Published as -
GERP 5.700
Segregation -
DB-ID NF2_000015
dbSNP ID rs74315500
Frequency -
Sources ;
Reference 7913580
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.970C>T p.(Gln324*) stop_gained - 10/16 - r.(?) -


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
rs74315500223006440630064406C/TOMIM phenotype variantsNEUROFIBROMATOSIS, TYPE II
CM070209223006440630064406HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available