Genomic variant #0000025160

Individual ID 00021470
Chromosome 10
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.43615594G>A
Reference -
DB-ID RET_000063 See all 3 reported entries
dbSNP ID rs201620214
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 0.0005
Allele Count 3
Allele Number 6014
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RET NM_020630.4 -?/-? - c.2673G>A r.(=) p.(=)
RET NM_020975.4 -?/-? - c.2673G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001192 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou