Full data view for gene MSH5

Information The variants shown are described using the NM_002441.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.75dup r.(?) p.(Ser26Glnfs*42) Both (homozygous) ACMG likely pathogenic (recessive) g.31708318dup g.31740541dup - - MSH5_000007 - Beyens ESHG2020 C01.4 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM PatM721 Beyens ESHG2020 C01.4 - M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.537+1G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.31711803G>A g.31744026G>A NM_172166.4:c.537+1G>A - MSH5_000009 - PubMed: Kherraf 2022, Journal: Kherraf 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM P0355 PubMed: Kherraf 2022, Journal: Kherraf 2022 analysis 96 unrelated men M - Tunisia - - - - - 1 Johan den Dunnen
+?/. - c.541C>T r.(?) p.(Arg181*) Unknown - VUS g.31711970C>T g.31744193C>T - - MSH5_000001 - PubMed: Lhota 2016 - rs147515280 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.882dup r.(?) p.(Leu295SerfsTer75) Unknown - VUS g.31721147dup g.31753370dup MSH5(NM_002441.4):c.876_877insT (p.(Leu295SerfsTer75)) - MSH5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1857del r.(?) p.(Ala620Glnfs*9 Both (homozygous) ACMG likely pathogenic (recessive) g.31728511del g.31760734del - - MSH5_000008 - Beyens ESHG2020 C01.4 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM PatM721 Beyens ESHG2020 C01.4 - M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.1857del r.(?) p.(Ala620Glnfs*9) Both (homozygous) ACMG likely pathogenic (recessive) g.31728511del g.31760734del - - MSH5_000008 - Beyens ESHG2020 C01.4 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM PatM1529 Beyens ESHG2020 C01.4 - M - Syria - - - - - 1 Johan den Dunnen
+?/. - c.1900C>T r.(?) p.(Arg634*) Unknown - VUS g.31728554C>T g.31760777C>T - - MSH5_000002 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.2208C>T r.(?) p.(=) Unknown - VUS g.31729621C>T - MSH5(NM_172166.4):c.2208C>T (p.(Asn736=)) - MSH5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3236G>A r.(=) p.(=) Unknown - VUS g.31733544G>A g.31765767G>A VWA7(NM_025258.2):c.2503C>T (p.(Arg835Trp)) - MSH5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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