Genomic variant #0000017689

Individual ID 00016803
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.30070871G>A
Reference -
DB-ID NF2_000011
dbSNP ID rs74315503
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.1387G>A r.(?) p.(Glu463Lys)
NF2 NM_016418.5 -?/-? - c.1387G>A r.(?) p.(Glu463Lys)
NF2 NM_181825.2 -?/-? - c.1387G>A r.(?) p.(Glu463Lys)
NF2 NM_181828.2 -?/-? - c.1261G>A r.(?) p.(Glu421Lys)
NF2 NM_181829.2 -?/-? - c.1264G>A r.(?) p.(Glu422Lys)
NF2 NM_181830.2 -?/-? - c.1138G>A r.(?) p.(Glu380Lys)
NF2 NM_181831.2 -?/-? - c.1138G>A r.(?) p.(Glu380Lys)
NF2 NM_181832.2 -?/-? - c.1387G>A r.(?) p.(Glu463Lys)
NF2 NM_181833.2 -?/-? - c.448-19870G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000508 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou