Variant #0000688180 (NC_000001.10:g.43803807G>T, MPL(NM_005373.2):c.117G>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.43803807G>T
DNA change (hg38) -
Published as MPL(NM_005373.2):c.117G>T (p.(Lys39Asn), p.K39N)
ISCN -
DB-ID MPL_000023 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00337 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2020-09-15 15:50:26 +02:00 (CEST)
Date last edited 2022-05-09 15:51:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MPL NM_005373.2 -?/. - c.117G>T r.(?) p.(Lys39Asn)