Genomic variant #0000035312

Individual ID 00021831
Chromosome 22
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.30067828G>A
Reference -
DB-ID NF2_000034 See all 2 reported entries
dbSNP ID rs768053145
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.1013G>A r.(?) p.(Arg338His)
NF2 NM_016418.5 ?/? - c.1013G>A r.(?) p.(Arg338His)
NF2 NM_181825.2 ?/? - c.1013G>A r.(?) p.(Arg338His)
NF2 NM_181828.2 ?/? - c.887G>A r.(?) p.(Arg296His)
NF2 NM_181829.2 ?/? - c.890G>A r.(?) p.(Arg297His)
NF2 NM_181830.2 ?/? - c.764G>A r.(?) p.(Arg255His)
NF2 NM_181831.2 ?/? - c.764G>A r.(?) p.(Arg255His)
NF2 NM_181832.2 ?/? - c.1013G>A r.(?) p.(Arg338His)
NF2 NM_181833.2 ?/? - c.448-22913G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002131 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou