Variant #0000009394 (NC_000008.11:g.144511753G>A, RECQL4(NM_004260.4):c.3430C>T)

Individual ID 00002115
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.144511753G>A
Reference -
DB-ID RECQL4_000008
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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


Gene     

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DNA change (cDNA)     

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RNA change     

Review status     
RECQL4 NM_004260.4 ?/? 20 c.3430C>T p.(Arg1144Cys) Hetero no r.(3430c>u) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000002402 DNA SEQ-NG Fares Taie Panel Cancer mama y Ovario (30 genes) ATM,BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL4, RINT1, SMARCA4, STK11, TP53, XRCC2 05-sep-2022 Multigenetic panel - 2 Silvina Sisterna-Hospital de Comunidad