Variant #0000306001 (NC_000002.11:g.219135315C>T, NM_001077399.2:c.57C>T (PNKD))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.219135315C>T
DNA change (hg38) g.218270592C>T
Published as PNKD(NM_015488.4):c.57C>T (p.R19=)
ISCN -
DB-ID PNKD_000001
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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PNKD NM_001077399.2 -?/. - c.57C>T r.(?) p.(Arg19=)
AAMP NM_001087.3 -?/. - c.-506G>A r.(?) p.(=)
TMBIM1 NM_022152.4 -?/. - c.*4883G>A r.(=) p.(=)


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