Genomic variant #0000039423

Individual ID 00020823
Chromosome 11
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.64572261G>A
Reference -
DB-ID MEN1_000038
dbSNP ID rs104894267
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.1393C>T r.(?) p.(Arg465*)
MEN1 NM_130799.2 +/+ - c.1378C>T r.(?) p.(Arg460*)
MEN1 NM_130800.2 +/+ - c.1393C>T r.(?) p.(Arg465*)
MEN1 NM_130801.2 +/+ - c.1393C>T r.(?) p.(Arg465*)
MEN1 NM_130802.2 +/+ - c.1393C>T r.(?) p.(Arg465*)
MEN1 NM_130803.2 +/+ - c.1393C>T r.(?) p.(Arg465*)
MEN1 NM_130804.2 +/+ - c.1393C>T r.(?) p.(Arg465*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006753 DNA SEQ 1 MEN1 1 Despoina Kalfakakou