Genomic variant #0000475051

Individual ID 00231500
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.5282787A>C
DNA change (hg38) -
Published as -
ISCN 46,XY
DB-ID PROKR2_000015
Variant remarks -
Reference PubMed: Eggers 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PROKR2 NM_144773.2 ?/. - c.1054T>G VUS r.(?) p.(Trp352Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232599 DNA SEQ-NG - 1031 gene panel PROKR2 1 Johan den Dunnen