Variant #0000010003 (NC_000010.11:g.43126630G>A, RET(NM_020975.5):c.3095G>A)

Individual ID 00002929
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.43126630G>A
Reference -
DB-ID RET_000013
dbSNP ID rs1838335979
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Angelucci Guillermina - Hospital Centeno 
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


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Review status     
RET NM_020975.5 ?/? 19 c.3095G>A p.(Gly1032Asp) Hetero no r.? -



Screenings


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Owner     
0000003244 DNA SEQ-NG ARGENETICS ABRAXAS1; AIP; APC; ATM; BAP1; BARD1; BLM; BMPR1A; BRCA1; BRCA2; BRIP1; CASR; CDC73; CDH1; CDK4; CDKN1B; CDKN2A; CEBPA; CHEK2; DICER1; DIS3L2; EPCAM; FANCA; FANCB; FANCC; FANCD2; FANCE; FANCF; FANCG; FANCI; FANCL; FANCM; FH; FLCN; GALNT12; GATA2; GPC3; GREM1; HOXB13; KIF1B; KIT; LZTR1; MAX; MEN1; MET; MITF; MLH1; MRE11; MSH2; MSH3; MSH6; MUTYH; NBN; NF1; NF2; NTHL1; PALB2; PDGFRA; PHOX2B; PIK3CA; PMS2; POLD1; POLE; POT1; PRKAR1A; PTCH1; PTEN; RAD50; RAD51B; RAD51C; RAD51D; RB1; RECQL4; RET; RHBDF2; RINT1; RUNX1; SDHA; SDHAF2; SDHB; SDHC; SDHD; SLX4; SMAD4; SMARCA4; SMARCB1; SMARCE1; SPINK1; SPRED1; STK11; SUFU; TERF2IP; TERT; TMEM127; TP53; TSC1; TSC2; VHL; WT1; XRCC2 06-nov-2023 Multigenetic panel - 1 Angelucci Guillermina - Hospital Centeno