Variant #0000005266 (NC_000010.11:., RET(NM_020975.5):c.1900T>G)

Individual ID 00000693
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) .
Reference -
DB-ID RET_000010 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Cecilia Montes-Hospital de Niños de la Santísima Trinidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
RET NM_020975.5 +/+ 11 c.1900T>G p.(Cys634Gly) Hetero no . -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000811 DNA SEQ Sanatorio Allende - 26-dec-2018 Known familial mutation RET 1 Cecilia Montes-Hospital de Niños de la Santísima Trinidad