Variant #0000225066 (NC_000013.10:g.23824818G>A, NM_000231.2:c.347G>A (SGCG))

Individual ID 00134035
Chromosome 13
Allele Both (homozygous)
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.23824818G>A
DNA change (hg38) g.23250679G>A
Published as -
ISCN -
DB-ID SGCG_000033 See all 19 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs17314986
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.11309 View details
Owner Imane Dalichaouche
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-06 16:01:55 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCG NM_000231.2 +/. 4 c.347G>A r.(?) p.(Arg116His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134873 DNA SEQ - - SGCG 1 Imane Dalichaouche


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