Variant #0000000099 (NC_000001.10:g.43804340G>A, MPL(NM_005373.2):c.340G>A)

Individual ID 00000047
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.43804340G>A
DNA change (hg38) g.43338669G>A
Published as -
ISCN -
DB-ID MPL_000001 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02479 View details
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2011-04-06 16:20:25 +02:00 (CEST)
Date last edited 2021-09-02 18:06:37 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MPL NM_005373.2 ?/. - c.340G>A r.(?) p.(Val114Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000047 DNA SEQ-NG - - ATP7B, BCKDHA, DPYD, ETFB, HEXB, IGHMBP2, KMT2A, MEFV, MPL, MYO5A, NHLRC1, NPC1, NPHS1, SERPINA1 16 Global Variome, with Curator vacancy