Genomic variant #0000044500

Individual ID 00022121
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.43595968A>G
Reference -
DB-ID RET_000120 See all 67 reported entries
dbSNP ID rs1800858
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.01763
Allele Count 106
Allele Number 6014
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RET NM_020630.4 ./. - c.135A>G r.(=) p.(=)
RET NM_020975.4 ./. - c.135A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007619 DNA SEQ-NG-I 1 - 42 Stevi Xera