Variant #0000341381 (NC_000002.11:g.219136134C>A, NM_001077399.2:c.98C>A (PNKD))

Chromosome 2
Allele Unknown
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.219136134C>A
DNA change (hg38) g.218271411C>A
Published as -
ISCN -
DB-ID PNKD_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) 0 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
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.98C>A r.(?) p.(Ala33Asp)
AAMP NM_001087.3 +?/. - c.-1325G>T r.(?) p.(=)
TMBIM1 NM_022152.4 +?/. - c.*4064G>T r.(=) p.(=)


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