Variant #0000152696 (NC_000023.10:g.(107554059_107681171)_(107783036_107802293)del, NC_000023.10(NM_001847.2):c.(?_-1)_(66+1_67-1)del (COL4A6))

Individual ID 00093458
Chromosome X
Allele Parent #1
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.(107554059_107681171)_(107783036_107802293)del
DNA change (hg38) -
Published as COL4A6 E2 to COL4A5 E2del
ISCN -
DB-ID COL4A5_000975 See all 4 reported entries
Variant remarks -
Reference PubMed: Zhang 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-12-30 14:57:31 +01:00 (CET)
Date last edited 2019-04-17 08:38:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL4A6 NM_001847.2 +/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000093626 DNA MLPA - - COL4A5, COL4A6 2 Judy Savige


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