Variant #0000570002 (NC_000020.10:g.5283323A>C, PROKR2(NM_144773.2):c.518T>G)

Chromosome 20
Allele Unknown
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.5283323A>C
DNA change (hg38) g.5302677A>C
Published as PROKR2(NM_144773.3):c.518T>G (p.L173R)
ISCN -
DB-ID PROKR2_000002 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00228 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PROKR2 NM_144773.2 +/. - c.518T>G r.(?) p.(Leu173Arg)