Variant #0000648570 (NC_000012.11:g.48538908G>A, PFKM(NM_000289.5):c.2087G>A)

Individual ID 00290713
Chromosome 12
Allele Parent #1
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.48538908G>A
DNA change (hg38) g.48145125G>A
Published as -
ISCN -
DB-ID PFKM_000009
Variant remarks conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs41291971
Origin Germline
Segregation -
Frequency 9/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0097 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PFKM NM_000289.5 ?/. - c.2087G>A r.(?) p.(Arg696His)
PFKM NM_001166686.1 ?/. - c.2300G>A r.(?) p.(Arg767His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291881 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq