Variant #0000650813 (NC_000020.10:g.5294673C>T, PROKR2(NM_144773.2):c.343G>A)

Individual ID 00292956
Chromosome 20
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.5294673C>T
DNA change (hg38) g.5314027C>T
Published as -
ISCN -
DB-ID PROKR2_000021
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs138672528
Origin Germline
Segregation -
Frequency 2/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 4.0E-5 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PROKR2 NM_144773.2 +/. - c.343G>A r.(?) p.(Val115Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294124 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq