Genomic variant #0000039444

Individual ID 00020923
Chromosome 11
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.64572107_64572108insG
Reference -
DB-ID MEN1_000040 See all 5 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 0.00017
Allele Count 1
Allele Number 5796
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MEN1 NM_000244.3 +/+ - c.1546_1547insC r.(?) p.(Val516Alafs*20)
MEN1 NM_130799.2 +/+ - c.1531_1532insC r.(?) p.(Val511Alafs*20)
MEN1 NM_130800.2 +/+ - c.1546_1547insC r.(?) p.(Val516Alafs*20)
MEN1 NM_130801.2 +/+ - c.1546_1547insC r.(?) p.(Val516Alafs*20)
MEN1 NM_130802.2 +/+ - c.1546_1547insC r.(?) p.(Val516Alafs*20)
MEN1 NM_130803.2 +/+ - c.1546_1547insC r.(?) p.(Val516Alafs*20)
MEN1 NM_130804.2 +/+ - c.1546_1547insC r.(?) p.(Val516Alafs*20)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006815 DNA SEQ 0 MEN1 1 Despoina Kalfakakou