Variant #0000170841 (NC_000020.10:g.5283323A>C, PROKR2(NM_144773.2):c.518T>G)

Individual ID 00104946
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 -
ISCN -
DB-ID PROKR2_000002 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs74315416
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00228 View details
Owner Anna Alkelai
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105421 DNA SEQ-NG-IT - - - 1 Anna Alkelai