Variant #0000652173 (NC_000007.13:g.127253551G>T, PAX4(NM_006193.2):c.574C>A)

Individual ID 00294316
Chromosome 7
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.127253551G>T
DNA change (hg38) g.127613497G>T
Published as -
ISCN -
DB-ID PAX4_000028
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs3824004
Origin Germline
Segregation -
Frequency 2/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00274 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     
PAX4 NM_006193.2 -?/. - c.574C>A r.(?) p.(Arg192Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295484 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq