Variant #0000734377 (NC_000011.9:g.76829381T>G, NM_004055.4:c.1150T>G (CAPN5))

Individual ID 00334453
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.76829381T>G
DNA change (hg38) g.77118335T>G
Published as -
ISCN -
DB-ID CAPN5_000050 See all 2 reported entries
Variant remarks -
Reference PubMed: Huang 2017
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-28 16:11:14 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAPN5 NM_004055.4 ?/. - c.1150T>G r.(?) p.(Phe384Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335682 DNA SEQ-NG - WES CAPN5 1 LOVD


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