Variant #0000514570 (NC_000002.11:g.219135274G>A, NM_001077399.2:c.16G>A (PNKD))

Chromosome 2
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.219135274G>A
DNA change (hg38) g.218270551G>A
Published as PNKD(NM_015488.4):c.16G>A (p.A6T)
ISCN -
DB-ID AAMP_000003
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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PNKD NM_001077399.2 ?/. - c.16G>A r.(?) p.(Ala6Thr)
AAMP NM_001087.3 ?/. - c.-465C>T r.(?) p.(=)
TMBIM1 NM_022152.4 ?/. - c.*4924C>T r.(=) p.(=)


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