Genomic variant #0000024288

Individual ID 00017445
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.30064348T>C
Reference -
DB-ID NF2_000030 See all 5 reported entries
dbSNP ID rs200272173
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 0.00087
Allele Count 5
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.912T>C r.(=) p.(=)
NF2 NM_016418.5 -?/-? - c.912T>C r.(=) p.(=)
NF2 NM_181825.2 -?/-? - c.912T>C r.(=) p.(=)
NF2 NM_181828.2 -?/-? - c.786T>C r.(=) p.(=)
NF2 NM_181829.2 -?/-? - c.789T>C r.(=) p.(=)
NF2 NM_181830.2 -?/-? - c.663T>C r.(=) p.(=)
NF2 NM_181831.2 -?/-? - c.663T>C r.(=) p.(=)
NF2 NM_181832.2 -?/-? - c.912T>C r.(=) p.(=)
NF2 NM_181833.2 -?/-? - c.447+26074T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001112 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou