Variant #0000315407 (NC_000017.10:g.40946808C>A, WNK4(NM_032387.4):c.2369C>A)

Chromosome 17
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.40946808C>A
DNA change (hg38) g.42794790C>A
Published as WNK4(NM_032387.5):c.2369C>A (p.T790N)
ISCN -
DB-ID WNK4_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00264 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BECN1 NM_003766.3 -?/. - c.*15970G>T r.(=) p.(=)
WNK4 NM_032387.4 -?/. - c.2369C>A r.(?) p.(Thr790Asn)
CNTD1 NM_173478.2 -?/. - c.-4278C>A r.(?) p.(=)