Genomic variant #0000026243

Individual ID 00021500
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.30067811G>A
Reference -
DB-ID NF2_000035
dbSNP ID rs200113152
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.1000-4G>A r.spl? p.?
NF2 NM_016418.5 -?/-? - c.1000-4G>A r.spl? p.?
NF2 NM_181825.2 -?/-? - c.1000-4G>A r.spl? p.?
NF2 NM_181828.2 -?/-? - c.874-4G>A r.spl? p.?
NF2 NM_181829.2 -?/-? - c.877-4G>A r.spl? p.?
NF2 NM_181830.2 -?/-? - c.751-4G>A r.spl? p.?
NF2 NM_181831.2 -?/-? - c.751-4G>A r.spl? p.?
NF2 NM_181832.2 -?/-? - c.1000-4G>A r.spl? p.?
NF2 NM_181833.2 -?/-? - c.448-22930G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001319 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou