Variant #0000012276 (NC_000002.12:g.47799403G>C, MSH6(NM_000179.2):c.1420G>C)

Individual ID 00006073
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.47799403G>C
Reference -
DB-ID MSH6_000063 See all 9 reported entries
dbSNP ID rs1558661621
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi - Sanatorio Allende
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     
MSH6 NM_000179.2 ?/? 4 c.1420G>C r.? p.(Val474Leu) Hetero no -



Screenings


AscendingScreening ID     
Template     
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Variants found     
Owner     
0000010300 DNA SEQ-NG;MLPA;CNV LACE LACE panel (88 genes) ABRAXAS1, AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HNF1B, HOXB13, KIT, LZTR1, MAX, MBD4, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TGFBR2, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XRCC2, XRCC3 19-aug-2026 Multigenetic panel - 2 Norma Rossi - Sanatorio Allende

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