Variant #0000005142 (NC_000010.11:g.43124887C>T, RET(NM_020975.5):c.2944C>T)

Individual ID 00000643
Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43124887C>T
Reference -
DB-ID RET_000009
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Florencia Petracchi-CEMIC
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
RET NM_020975.5 -/- 18 c.2944C>T p.(Arg982Cys) Hetero no r.(?) RECLASSIFIED JULY 2022



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000744 DNA SEQ CEMIC - 23-oct-2017 Specific pathology panel RET 5 Florencia Petracchi-CEMIC