Full data view for gene MPO

Information The variants shown are described using the NM_000250.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.2031-2A>C r.spl? p.? Unknown - pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2031-2A>C r.spl? p.? Unknown - pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2031-2A>C r.spl? p.? Unknown - likely pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2031-2A>C r.2030_2031ins[2031-109_2031-2;c] p.R677Wfs*73 Unknown - VUS g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 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.2031-2A>C r.2030_2031ins[2031-109_2031-2;c] p.R677Wfs*73 Unknown - VUS g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 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.2031-2A>C r.2030_2031ins[2031-109_2031-2;c] p.R677Wfs*73 Unknown - VUS g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 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.2031-2A>C r.spl p.? Parent #1 - pathogenic g.56348226T>G g.58270865T>G - - MPO_000004 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35897051 Germline - 3/2730 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.2031-2A>C r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PSORS GYFAP0014 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+?/. - c.2031-2A>C r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - PSORS DDPLM0001 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+?/. - c.2031-2A>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - PSORS SCAR2567 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.(2030_2031ins[2031-109_2031-2;c]) p.(Phe678fs) Both (homozygous) - pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 minigene splicing assay PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat1 AP PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.(2030_2031ins[2031-109_2031-2;c]) p.(Phe678fs) Both (homozygous) - pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 minigene splicing assay PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat7 CM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.(2030_2031ins[2031-109_2031-2;c]) p.(Phe678fs) Parent #1 - pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 minigene splicing assay PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat13 RM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.spl p.? Unknown - association g.56348226T>G g.58270865T>G - - MPO_000004 {PMID:Vergnano 2020:32758448}, {DOI:Vergnano 2020:10.1016/j.ajhg.2020.06.020} significant association with neutrophil abundance - - Germline - - - - - DNA arraySNP - - ? cases PubMed: Vergnano 2020, Journal: Vergnano 2020 association analysis UK-biobank - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.spl? p.? Unknown - pathogenic g.56348226T>G - MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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