Genomic variant #0000007912

Individual ID 00016497
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.64575454G>A
Reference -
DB-ID MEN1_000012 See all 5 reported entries
dbSNP ID  rs199706698
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 0.00084
Allele Count 5
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.578C>T r.(?) p.(Pro193Leu)
MEN1 NM_130799.2 ?/? - c.563C>T r.(?) p.(Pro188Leu)
MEN1 NM_130800.2 ?/? - c.578C>T r.(?) p.(Pro193Leu)
MEN1 NM_130801.2 ?/? - c.578C>T r.(?) p.(Pro193Leu)
MEN1 NM_130802.2 ?/? - c.578C>T r.(?) p.(Pro193Leu)
MEN1 NM_130803.2 ?/? - c.578C>T r.(?) p.(Pro193Leu)
MEN1 NM_130804.2 ?/? - c.578C>T r.(?) p.(Pro193Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000214 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou