Genomic variant #0000132553

Individual ID 00081731
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5283039G>A
DNA change (hg38) g.5302393G>A
Published as R268C
ISCN -
DB-ID PROKR2_000001 See all 3 reported entries
Variant remarks -
Reference PubMed: Hanchate 2012, Journal: Hanchate 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01469 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 +/. 2 c.802C>T - r.(?) p.(Arg268Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081860 DNA SEQ - - PROKR2, SEMA3A 2 Johan den Dunnen