Variant #0000793789 (NC_000011.9:g.76825452C>T, NM_004055.4:c.? (CAPN5))

Individual ID 00379437
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76825452C>T
DNA change (hg38) -
Published as c.671C>T
ISCN -
DB-ID CAPN5_000055
Variant remarks -
Reference PubMed: Zhou-2011
ClinVar ID -
dbSNP ID rs200993761
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-08-05 00:17:46 +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     
CAPN5 NM_004055.4 +?/. 5 c.? r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000380637 DNA SEQ blood WES CAPN5 1 LOVD


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