Variant #0000572678 (NC_000023.10:g.101096053T>C, NXF5(NM_032946.2):c.415A>G)

Chromosome X
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.101096053T>C
DNA change (hg38) g.101841081T>C
Published as NXF5(NM_032946.2):c.415A>G (p.I139V, p.(Ile139Val))
ISCN -
DB-ID NXF5_000037 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) 0.00019 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NXF5 NM_032946.2 -?/. - c.415A>G r.(?) p.(Ile139Val)