Variant #0000010148 (NC_000016.10:g.2046238G>A, NTHL1(NM_002528.7):c.244C>T)

Individual ID 00003099
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.2046238G>A
Reference -
DB-ID NTHL1_000002 See all 5 reported entries
dbSNP ID rs150766139
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
Options




Variant on transcripts


Gene     
AscendingTranscript     
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DNA change (cDNA)     
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Review status     
NTHL1 NM_002528.7 +/+ 2 c.244C>T p.(Gln82*) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     
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Variants found     
Owner     
0000003417 DNA SEQ-NG GENOS Massive sequencing of a panel of genes related to hereditary cancer (162 genes): ACD, AIP, AKT1, ALK, APC, AR, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSF3R, CTNNA1, DDB2, DICER1, DIS3L2, DKC1, DLST, EGLN1, EGLN2, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GALNT12, GCM2, GDNF, GFI1, GPC3, GPR101, GREM1, HAX1, HNF1A, HNF1B, HOXB13, HRAS, IDH1, JAGN1, KIF1B, KIT, LZTR1, MAD2L2, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RFWD3, RNF139, RNF43, RPS20, RTEL1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP54, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, VPS45, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3 14-feb2024 Multigenetic panel - 1 Guillermo Alberto-Instituto Fleming

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