Variant #0001024205 (NC_000001.10:g.78392157G>C, NM_144573.3:c.548G>C (NEXN))

Chromosome 1
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.78392157G>C
DNA change (hg38) -
Published as NEXN(NM_144573.4):c.548G>C (p.G183A)
ISCN -
DB-ID NEXN_000141
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2025-02-07 18:57:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NEXN NM_144573.3 ?/. - c.548G>C r.(?) p.(Gly183Ala)


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