Variant #0000870905 (NC_000005.9:g.155771579T>C, NM_000337.5:c.84T>C (SGCD))

Individual ID 00412165
Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.155771579T>C
DNA change (hg38) g.156344569T>C
Published as -
ISCN -
DB-ID SGCD_000022 See all 14 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.46782 View details
Owner Micaela Carcione
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Micaela Carcione
Date created 2022-06-22 16:42:28 +02:00 (CEST)
Date last edited 2022-11-14 12:38:59 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCD NM_000337.5 -/. 3 c.84T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000413438 DNA SEQ-NG-I blood WES DMD, SGCA, SGCB, SGCD, SGCG 20 Micaela Carcione


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