Variant #0000010595 (NC_000003.12:g.37001036T>G, MLH1(NM_000249.4):c.289T>G)

Individual ID 00003488
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.37001036T>G
Reference -
DB-ID MLH1_000067 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez-CEMAFE
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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MLH1 NM_000249.4 ?/+? 3 c.289T>G r.(?) p.(Tyr97Asp) Hetero no -



Screenings


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Owner     
0000003811 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. 07-jun-2024 Multigenetic panel - 4 Marcela Lopez-CEMAFE