Genomic variant #0000039490

Individual ID 00016630
Chromosome 10
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.43600559T>C
Reference -
DB-ID RET_000006 See all 12 reported entries
dbSNP ID rs139790943
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 0.00205
Allele Count 12
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.785T>C r.(?) p.(Val262Ala)
RET NM_020975.4 ?/? - c.785T>C r.(?) p.(Val262Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006966 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou