Variant #0000010222 (NC_000002.12:g.47791000A>G, NM_000179.2:c.334A>G (MSH6))

Individual ID 00003200
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.47791000A>G
Reference -
DB-ID MSH6_000067 See all 3 reported entries
dbSNP ID rs864622397
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jesica Ramirez-Hospital Central de Mendoza
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2024-09-16 17:06:44 -03:00 (-03)
Date last edited N/A
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Variant on transcripts


Gene     
AscendingTranscript     
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DNA change (cDNA)     
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Review status     
MSH6 NM_000179.2 ?/? 2 c.334A>G r.(?) p.(Asn112Asp) Hetero no -



Screenings


AscendingScreening ID     
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Owner     
0000003518 DNA SEQ-NG;CNV GENDA;Blueprint Genetics Blueprint Genetics Comprehensive Hereditary Cancer Flex Panel. APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CDKN2B, CHEK2, DICER1, DIS3L2, EPCAM, FANCC, FH, FLCN, GALNT12, HNF1B, HOXB13, KIT, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS1, PMS2, POLD1, POLE, POT1, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RECQL, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, SUFU, TGFBR2, TP53, TSC1, TSC2, VHL, WT1, XRC22. 02-nov-2022 Multigenetic panel - 1 Jesica Ramirez-Hospital Central de Mendoza

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