Variant #0000443612 (NC_000023.10:g.153631740C>T, DNASE1L1(NM_001009932.1):c.413-18G>A)

Individual ID 00210899
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.153631740C>T
DNA change (hg38) g.154403399C>T
Published as -
ISCN -
DB-ID RPL10_000012
Variant remarks -
Reference PubMed: Ulirsch 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNASE1L1 NM_001009932.1 ./. - c.413-18G>A r.(=) p.(=)
RPL10 NM_006013.3 +/. - c.*2545C>T r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211977 DNA SEQ;SEQ-NG - WES RPL10 1 Johan den Dunnen