Variant #0000649652 (NC_000017.10:g.56348226T>G, NC_000017.10(NM_000250.1):c.2031-2A>C (MPO))

Individual ID 00291795
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.56348226T>G
DNA change (hg38) g.58270865T>G
Published as -
ISCN -
DB-ID MPO_000004 See all 15 reported entries
Variant remarks 3 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs35897051
Origin Germline
Segregation -
Frequency 3/2730 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00433 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2020-10-30 12:38:50 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MPO NM_000250.1 +/. - c.2031-2A>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292963 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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