Full data view for gene MPL

Information The variants shown are described using the NM_005373.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.340G>A r.(?) p.(Val114Met) Unknown - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.340G>A r.(?) p.(Val114Met) Unknown - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.340G>A r.(?) p.(Val114Met) Unknown - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.340G>A r.(?) p.(Val114Met) Unknown - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.340G>A r.(?) p.(Val114Met) Unknown - likely benign g.43804340G>A g.43338669G>A MPL(NM_005373.2):c.340G>A (p.V114M) - MPL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.340G>A r.(?) p.(Val114Met) Parent #1 - likely benign g.43804340G>A g.43338669G>A - - MPL_000001 151 heterozygous; Clinindb (India) Faruq 2020, submtted - rs12731981 Germline - 151/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 151 Mohammed Faruq
-?/. - c.340G>A r.(?) p.(Val114Met) Both (homozygous) - likely benign g.43804340G>A g.43338669G>A - - MPL_000001 3 homozygous; Clinindb (India) Faruq 2020, submtted - rs12731981 Germline - 3/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.340G>A r.(?) p.(Val114Met) Unknown - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
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