Genomic variant #0000000102

Individual ID 00000065
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 8 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.02376 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000000065 DNA SEQ-NG - - ATP7B, CFTR, ETFB, GLB1, MPL, NHLRC1, NPHS1, SERPINA1, SMPD1 9 LOVD-team, but with Curator vacancy