Variant #0000809284 (NC_000020.10:g.5294959del, NM_144773.2:c.58del (PROKR2))

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5294959del
DNA change (hg38) -
Published as PROKR2(NM_144773.3):c.58delC (p.H20Mfs*24), PROKR2(NM_144773.4):c.58del (p.(His20MetfsTer24))
ISCN -
DB-ID PROKR2_000013 See all 3 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 (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PROKR2 NM_144773.2 ?/. - c.58del r.(?) p.(His20MetfsTer24)


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