All variants in the MPL gene

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

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
-?/. - c.340G>A r.(?) p.(Val114Met) - 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 - VKGL-NL_Utrecht
-?/. - c.340G>A r.(?) p.(Val114Met) - likely benign g.43804340G>A g.43338669G>A - - MPL_000001 151 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12731981 Germline - 151/2794 individuals - 0 - Mohammed Faruq
-?/. - c.340G>A r.(?) p.(Val114Met) - likely benign g.43804340G>A g.43338669G>A - - MPL_000001 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12731981 Germline - 3/2794 individuals - 0 - Mohammed Faruq
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
Legend   How to query