Genomic variant #0000034763

Individual ID 00021796
Chromosome 11
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.64575045C>T
Reference -
DB-ID MEN1_000024 See all 3 reported entries
dbSNP ID rs199909967
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 0.00052
Allele Count 3
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.777G>A r.(=) p.(=)
MEN1 NM_130799.2 -?/-? - c.762G>A r.(=) p.(=)
MEN1 NM_130800.2 -?/-? - c.777G>A r.(=) p.(=)
MEN1 NM_130801.2 -?/-? - c.777G>A r.(=) p.(=)
MEN1 NM_130802.2 -?/-? - c.777G>A r.(=) p.(=)
MEN1 NM_130803.2 -?/-? - c.777G>A r.(=) p.(=)
MEN1 NM_130804.2 -?/-? - c.777G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002082 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou