Variant #0000923244 (NC_000001.10:g.78392445C>A, NM_144573.3:c.732C>A (NEXN))

Chromosome 1
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.78392445C>A
DNA change (hg38) -
Published as NEXN(NM_144573.3):c.732C>A (p.P244=), NEXN(NM_144573.4):c.732C>A (p.P244=, p.(Pro244=))
ISCN -
DB-ID NEXN_000023 See all 6 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) 0.0006 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2023-04-16 21:50:28 +02:00 (CEST)
Date last edited 2025-05-05 21:14:00 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NEXN NM_144573.3 -?/. - c.732C>A r.(?) p.(Pro244=)


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