Variant #0000861837 (NC_000010.10:g.120925057C>T, NM_213649.1:c.103G>A (SFXN4))

Chromosome 10
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.120925057C>T
DNA change (hg38) -
Published as SFXN4(NM_213649.1):c.103G>A (p.E35K, p.(Glu35Lys))
ISCN -
DB-ID SFXN4_000002 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) 0.00016 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 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRDX3 NM_006793.2 ?/. - c.*2935G>A r.(=) p.(=)
SFXN4 NM_213649.1 ?/. - c.103G>A r.(?) p.(Glu35Lys)


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