Genomic variant #0000023627

Individual ID 00017380
Chromosome 11
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.64572560C>T
Reference -
DB-ID MEN1_000003 See all 35 reported entries
dbSNP ID rs138770431
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 0.00589
Allele Count 35
Allele Number 5944
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MEN1 NM_000244.3 -/- - c.1311G>A r.(=) p.(=)
MEN1 NM_130799.2 -/- - c.1296G>A r.(=) p.(=)
MEN1 NM_130800.2 -/- - c.1311G>A r.(=) p.(=)
MEN1 NM_130801.2 -/- - c.1311G>A r.(=) p.(=)
MEN1 NM_130802.2 -/- - c.1311G>A r.(=) p.(=)
MEN1 NM_130803.2 -/- - c.1311G>A r.(=) p.(=)
MEN1 NM_130804.2 -/- - c.1311G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001042 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou