Variant #0000224566 (NC_000005.9:g.155771584G>A, NM_000337.5:c.89G>A (SGCD))

Individual ID 00133708
Chromosome 5
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.155771584G>A
DNA change (hg38) g.156344574G>A
Published as W30X
ISCN -
DB-ID SGCD_000003 See all 4 reported entries
Variant remarks -
Reference PubMed: Khadlikar 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-05-21 20:14:42 +02:00 (CEST)
Date last edited 2012-11-02 20:43:04 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCD NM_000337.5 +/. 3 c.89G>A r.(?) p.Trp30*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134546 DNA DHPLC - - SGCD 2 Johan den Dunnen


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