Genomic variant #0000039876

Individual ID 00021983
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.30067808C>G
Reference -
DB-ID NF2_000044
dbSNP ID  rs776237839
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
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF2 NM_000268.3 ?/? - c.1000-7C>G r.(=) p.(=)
NF2 NM_016418.5 ?/? - c.1000-7C>G r.(=) p.(=)
NF2 NM_181825.2 ?/? - c.1000-7C>G r.(=) p.(=)
NF2 NM_181828.2 ?/? - c.874-7C>G r.(=) p.(=)
NF2 NM_181829.2 ?/? - c.877-7C>G r.(=) p.(=)
NF2 NM_181830.2 ?/? - c.751-7C>G r.(=) p.(=)
NF2 NM_181831.2 ?/? - c.751-7C>G r.(=) p.(=)
NF2 NM_181832.2 ?/? - c.1000-7C>G r.(=) p.(=)
NF2 NM_181833.2 ?/? - c.448-22933C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006996 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou