WebThe MSH6 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division. The MSH6 protein joins with another protein called MSH2 (produced from the MSH2 gene) to form a two-protein complex called a dimer. Web13 rows · Mar 26, 2024 · This variant is also known as 1172insA or c.3514_3515insA. …
VCV000820546.9 - ClinVar - NCBI - National Center for …
WebMar 26, 2024 · First in ClinVar: Jun 22, 2024 Most recent Submission: Feb 7, 2024 Last evaluated: Sep 5, 2024 Accession: VCV000921604.9 Variation ID: 921604 Description: ... The c.1662-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 11 in the MSH2 gene. This nucleotide position is not well conserved in ... WebApr 9, 2024 · ClinVar contains an entry for this variant (Variation ID: 578361). Reports on variants that affect the MSH2 initiator codon, c.1A>C and c.1A>T, indicate that Met26 may … mccarty evergreen knoxville
VCV000089404.39 - ClinVar - NCBI - National Center for …
WebSep 24, 2024 · The MSH2 variant, c.2168C>T, p.(Ser723Phe) was previously described as a variant of unknown significance, but we have now reclassified it to be likely pathogenic. The POLE variant, c.1089C>A, p.(Asn363Lys) was identified in a patient with three metachronous colorectal cancers from age 28 and turned out to be de novo. Web因此,msi检测的筛查流程比mmr检测筛查流程更加简捷。目前csco指南推荐的林奇综合征msi筛查流程是通过金标准方法检测nci panel来完成的。而最终确诊林奇综合征的诊断方法需要依托mmr相关的mlh1、msh2、msh6、pms2和epcam这5个基因的胚系突变检测。 WebJan 13, 2024 · ClinVar archives and aggregates information about relationships among variation and human health. An official website of the United States government. ... NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) Gene: MSH2:mutS homolog 2 [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 2p21 mccartyeye.com