Variant #0000650812 (NC_000020.10:g.5283278G>A, PROKR2(NM_144773.2):c.563C>T)

Individual ID 00292955
Chromosome 20
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5283278G>A
DNA change (hg38) g.5302632G>A
Published as -
ISCN -
DB-ID PROKR2_000016 See all 4 reported entries
Variant remarks 8 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs376239580
Origin Germline
Segregation -
Frequency 8/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-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.563C>T r.(?) p.(Ser188Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294123 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq