Variant #0000344767 (NC_000001.10:g.231488610C>T, EGLN1(NM_022051.2):c.*13547G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.231488610C>T
DNA change (hg38) g.231352864C>T
Published as -
ISCN -
DB-ID SPRTN_000004
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGLN1 NM_022051.2 +?/. - c.*13547G>A r.(=) p.(=)
SPRTN NM_032018.5 +?/. - c.973C>T r.(?) p.(Gln325Ter)