Genomic variant #0000475049

Individual ID 00231485
Chromosome 20
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5283278G>A
DNA change (hg38) -
Published as -
ISCN 46,XY
DB-ID PROKR2_000016 See all 3 reported entries
Variant remarks -
Reference PubMed: Eggers 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PROKR2 NM_144773.2 ?/. - c.563C>T VUS r.(?) p.(Ser188Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232584 DNA SEQ-NG - 1031 gene panel PROKR2 1 Johan den Dunnen