Variant #0000624172 (NC_000020.10:g.5294762C>T, PROKR2(NM_144773.2):c.254G>A)

Chromosome 20
Allele Unknown
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.5294762C>T
DNA change (hg38) g.5314116C>T
Published as PROKR2(NM_144773.3):c.254G>A (p.R85H)
ISCN -
DB-ID PROKR2_000010 See all 2 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) 0.00071 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PROKR2 NM_144773.2 +?/. - c.254G>A r.(?) p.(Arg85His)