All variants in the MPL gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.690A>G r.(?) p.(Glu230=) - benign g.43805240A>G g.43339569A>G MPL(NM_005373.2):c.690A>G (p.(=)) - MPL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.690A>G r.(=) p.(=) - benign g.43805240A>G g.43339569A>G - - MPL_000018 224 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16830693 Germline - 224/2794 individuals - - - Mohammed Faruq
-/. - c.690A>G r.(=) p.(=) - benign g.43805240A>G g.43339569A>G - - MPL_000018 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16830693 Germline - 4/2794 individuals - - - Mohammed Faruq
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