Variant #0000648569 (NC_000012.11:g.48526719C>T, PFKM(NM_000289.5):c.306C>T)

Individual ID 00290712
Chromosome 12
Allele Parent #1
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.48526719C>T
DNA change (hg38) g.48132936C>T
Published as -
ISCN -
DB-ID PFKM_000008
Variant remarks 29 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs11552507
Origin Germline
Segregation -
Frequency 29/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01975 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.306C>T r.(?) p.(Ala102=)
PFKM NM_001166686.1 -?/. - c.519C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291880 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq