Genomic variant #0000029106

Individual ID 00020898
Chromosome 22
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.30038257_30038258insA
Reference -
DB-ID NF2_000036
dbSNP ID -
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 0.00017
Allele Count 1
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.430_431insA r.(?) p.(Tyr144*)
NF2 NM_016418.5 +/+ - c.430_431insA r.(?) p.(Tyr144*)
NF2 NM_181825.2 +/+ - c.430_431insA r.(?) p.(Tyr144*)
NF2 NM_181828.2 +/+ - c.304_305insA r.(?) p.(Tyr102*)
NF2 NM_181829.2 +/+ - c.307_308insA r.(?) p.(Tyr103*)
NF2 NM_181830.2 +/+ - c.181_182insA r.(?) p.(Tyr61*)
NF2 NM_181831.2 +/+ - c.181_182insA r.(?) p.(Tyr61*)
NF2 NM_181832.2 +/+ - c.430_431insA r.(?) p.(Tyr144*)
NF2 NM_181833.2 +/+ - c.430_431insA r.(?) p.(Tyr144*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001568 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou