Genomic variant #0000024846

Individual ID 00017505
Chromosome 11
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.64575491C>A
Reference -
DB-ID MEN1_000015 See all 10 reported entries
dbSNP ID rs376872829
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 0.00168
Allele Count 10
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.541G>T r.(?) p.(Ala181Ser)
MEN1 NM_130799.2 ?/? - c.526G>T r.(?) p.(Ala176Ser)
MEN1 NM_130800.2 ?/? - c.541G>T r.(?) p.(Ala181Ser)
MEN1 NM_130801.2 ?/? - c.541G>T r.(?) p.(Ala181Ser)
MEN1 NM_130802.2 ?/? - c.541G>T r.(?) p.(Ala181Ser)
MEN1 NM_130803.2 ?/? - c.541G>T r.(?) p.(Ala181Ser)
MEN1 NM_130804.2 ?/? - c.541G>T r.(?) p.(Ala181Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001163 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou