Variant #0000010582 (NC_000016.10:g.2046382C>T, NTHL1(NM_002528.7):c.116-16G>A)

Individual ID 00003484
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.2046382C>T
Reference -
DB-ID NTHL1_000006
dbSNP ID rs145790217
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
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     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
NTHL1 NM_002528.7 ?/? 1i c.116-16G>A p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003807 DNA SEQ-NG SENTIS SENTIS Hereditary Cancer Panel (90 genes) 28-aug-2024 Multigenetic panel - 4 Guillermo Alberto-Instituto Fleming