Genomic variant #0000039418

Individual ID 00020791
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.64575374C>T
Reference Concolino et al (2016)  
DB-ID MEN1_000037 See all 2 reported entries
dbSNP ID rs794728621
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.658G>A r.(?) p.(Val220Met)
MEN1 NM_130799.2 +?/+? - c.643G>A r.(?) p.(Val215Met)
MEN1 NM_130800.2 +?/+? - c.658G>A r.(?) p.(Val220Met)
MEN1 NM_130801.2 +?/+? - c.658G>A r.(?) p.(Val220Met)
MEN1 NM_130802.2 +?/+? - c.658G>A r.(?) p.(Val220Met)
MEN1 NM_130803.2 +?/+? - c.658G>A r.(?) p.(Val220Met)
MEN1 NM_130804.2 +?/+? - c.658G>A r.(?) p.(Val220Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006736 DNA SEQ 1 MEN1 1 Despoina Kalfakakou