View genomic variant #0000002975

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30064406C>T
Published as -
GERP 5.700
Segregation -
DB-ID NF2_000015
MSCV MSCV_0002975
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

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 0000002975 ?/? c.970C>T p.(Gln324*) stop_gained - 10/16 - r.(?) -
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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