Variant #0000649980 (NC_000019.9:g.40903208G>A, PRX(NM_181882.2):c.1051C>T)

Individual ID 00292123
Chromosome 19
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.40903208G>A
DNA change (hg38) g.40397301G>A
Published as -
ISCN -
DB-ID PRX_000091 See all 2 reported entries
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs73933276
Origin Germline
Segregation -
Frequency 2/2775 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00494 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     
PRX NM_020956.2 -?/. - c.*1256C>T r.(=) p.(=)
PRX NM_181882.2 -?/. - c.1051C>T r.(?) p.(Pro351Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293291 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq