Variant #0001012420 (NC_000017.10:g.78188879T>C, NM_000199.3:c.308A>G (SGSH))

Individual ID 00456256
Chromosome 17
Allele Parent #1
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.78188879T>C
DNA change (hg38) g.80215080T>C
Published as -
ISCN -
DB-ID SGSH_000199
Variant remarks -
Reference PubMed: Fernandez-Marmiesse 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-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
Date created 2024-10-24 08:52:57 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGSH NM_000199.3 ?/. - c.308A>G r.(?) p.(Lys103Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000457873 DNA SEQ;SEQ-NG - gene panel - 2 Johan den Dunnen


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