Variant #0000235426 (NC_000017.10:g.40690709C>G, NM_000263.3:c.700C>G (NAGLU))

Individual ID 00143764
Chromosome 17
Allele Both (homozygous)
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.40690709C>G
DNA change (hg38) g.42538691C>G
Published as -
ISCN -
DB-ID NAGLU_000003 See all 2 reported entries
Variant remarks another variant affecting amino acid R234 is already published as pathogenic: c.700C>T, p.(R234C)
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dr. Alexandra Wey-Fabrizius
Database submission license No license selected
Created by Dr. Alexandra Wey-Fabrizius
Date created 2017-12-05 10:54:32 +01:00 (CET)
Date last edited 2017-12-05 18:14:52 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NAGLU NM_000263.3 +?/. 4 c.700C>G r.(?) p.(Arg234Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144622 DNA SEQ blood - NAGLU 1 Dr. Alexandra Wey-Fabrizius


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