Variant #0000303024 (NC_000001.10:g.78392121T>C, NM_144573.3:c.512T>C (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.78392121T>C
DNA change (hg38) g.77926436T>C
Published as NEXN(NM_144573.3):c.512T>C (p.I171T), NEXN(NM_144573.4):c.512T>C (p.I171T)
ISCN -
DB-ID NEXN_000011 See all 3 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) 0.00069 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +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.512T>C r.(?) p.(Ile171Thr)


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