Variant #0000848853 (NC_000001.10:g.78383905G>C, NM_144573.3:c.394G>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.78383905G>C
DNA change (hg38) -
Published as NEXN(NM_144573.4):c.394G>C (p.D132H)
ISCN -
DB-ID NEXN_000110 See all 2 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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2022-05-09 15:40:45 +02:00 (CEST)
Date last edited 2025-02-07 18:57:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NEXN NM_144573.3 ?/. - c.394G>C r.(?) p.(Asp132His)


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