Variant #0000677088 (NC_000003.11:g.71830623G>A, NM_001126128.1:c.217C>T (PROK2))

Chromosome 3
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.71830623G>A
DNA change (hg38) -
Published as PROK2(NM_001126128.1):c.217C>T (p.(Arg73Cys)), PROK2(NM_001126128.2):c.217C>T (p.R73C)
ISCN -
DB-ID PROK2_000009 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 (gnomAD v.2.1.1) 8.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2024-08-28 13:16:32 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PROK2 NM_001126128.1 ?/. - c.217C>T r.(?) p.(Arg73Cys)


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