Variant #0000398556 (NC_000017.10:g.48246607G>A, NM_000023.2:c.739G>A (SGCA))

Individual ID 00174786
Chromosome 17
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48246607G>A
DNA change (hg38) g.50169246G>A
Published as -
ISCN -
DB-ID SGCA_000009 See all 57 reported entries
Variant remarks ACMG grading: PS3, PM3, PP2, PP3, PP5; additional variants in COL6A1, COL6A2, MYH2, LDB3/ZASP, POMT1
Reference PubMed: Fichna 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 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 2018-08-10 19:10:48 +02:00 (CEST)
Date last edited 2019-02-28 15:57:45 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCA NM_000023.2 +?/. - c.739G>A r.(?) p.(Val247Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175677 DNA SEQ-NG - WES - 2 Johan den Dunnen


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