Variant #0000441653 (NC_000018.9:g.29121188G>A, NM_001943.3:c.1912G>A (DSG2))

Individual ID 00209233
Chromosome 18
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.29121188G>A
DNA change (hg38) g.31541225G>A
Published as -
ISCN -
DB-ID DSG2_000080 See all 6 reported entries
Variant remarks -
Reference PubMed: De Bortoli, ARVD/C database 7903
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner Paul van der Zwaag
Database submission license No license selected
Created by Paul van der Zwaag
Date created 2009-06-18 09:43:31 +02:00 (CEST)
Date last edited 2018-12-24 12:41:55 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DSG2 NM_001943.3 +?/? 13 c.1912G>A r.(?) p.(Gly638Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210290 DNA SEQ - - DSG2 1 Paul van der Zwaag


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