Genomic variant #0000039943

Individual ID 00021990
Chromosome 22
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.30070923C>T
Reference -
DB-ID NF2_000042 See all 2 reported entries
dbSNP ID rs145666157
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00035
Allele Count 2
Allele Number 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF2 NM_000268.3 -?/-? - c.1439C>T r.(?) p.(Thr480Met)
NF2 NM_016418.5 -?/-? - c.1439C>T r.(?) p.(Thr480Met)
NF2 NM_181825.2 -?/-? - c.1439C>T r.(?) p.(Thr480Met)
NF2 NM_181828.2 -?/-? - c.1313C>T r.(?) p.(Thr438Met)
NF2 NM_181829.2 -?/-? - c.1316C>T r.(?) p.(Thr439Met)
NF2 NM_181830.2 -?/-? - c.1190C>T r.(?) p.(Thr397Met)
NF2 NM_181831.2 -?/-? - c.1190C>T r.(?) p.(Thr397Met)
NF2 NM_181832.2 -?/-? - c.1439C>T r.(?) p.(Thr480Met)
NF2 NM_181833.2 -?/-? - c.448-19818C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007003 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou