Variant #0000650812 (NC_000020.10:g.5283278G>A, PROKR2(NM_144773.2):c.563C>T)
Individual ID |
00292955 |
Chromosome |
20 |
Allele |
Parent #1 |
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.5283278G>A |
DNA change (hg38) |
g.5302632G>A |
Published as |
- |
ISCN |
- |
DB-ID |
PROKR2_000016 See all 4 reported entries |
Variant remarks |
8 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs376239580 |
Origin |
Germline |
Segregation |
- |
Frequency |
8/2795 individuals |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
1.0E-5 View details |
Owner |
Mohammed Faruq |

Variant on transcripts
Screenings
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