Genomic variant #0000028125

Individual ID 00020789
Chromosome 10
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.43607621G>T
Reference Kaldrymides et al (2006) Peppa et al (2008)
DB-ID RET_000073 See all 10 reported entries
dbSNP ID rs75873440
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 0.00085
Allele Count 5
Allele Number 5866
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RET NM_020630.4 +/+ - c.1597G>T r.(?) p.(Gly533Cys)
RET NM_020975.4 +/+ - c.1597G>T r.(?) p.(Gly533Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001479 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou