Genomic variant #0000031594

Individual ID 00017796
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.30077634A>G
Reference -
DB-ID NF2_000037 See all 2 reported entries
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 0.00035
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.1737+44A>G r.(=) p.(=)
NF2 NM_016418.5 ?/? - c.1737+44A>G r.(=) p.(=)
NF2 NM_181825.2 ?/? - c.1737+44A>G r.(=) p.(=)
NF2 NM_181828.2 ?/? - c.1611+44A>G r.(=) p.(=)
NF2 NM_181829.2 ?/? - c.1614+44A>G r.(=) p.(=)
NF2 NM_181830.2 ?/? - c.1488+44A>G r.(=) p.(=)
NF2 NM_181831.2 ?/? - c.1488+44A>G r.(=) p.(=)
NF2 NM_181832.2 ?/? - c.1737+44A>G r.(=) p.(=)
NF2 NM_181833.2 ?/? - c.448-13107A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001799 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou