Variant #0000441756 (NC_000006.11:g.7542236G>A, DSP(NM_004415.2):c.88G>A)

Individual ID 00209331
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.7542236G>A
DNA change (hg38) g.7542003G>A
Published as -
ISCN -
DB-ID DSP_000002 See all 12 reported entries
Variant remarks -
Reference PubMed: Yang, ARVD/C database 7375
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0016 View details
Owner Paul van der Zwaag
Database submission license No license selected
Created by Paul van der Zwaag
Date created 2009-01-26 15:46:40 +01:00 (CET)
Date last edited 2018-12-24 13:09:58 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DSP NM_004415.2 +/? 1 c.88G>A r.(?) p.(Val30Met) PKP1 and JUP interacting domain



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210388 DNA SEQ - - DSP 1 Paul van der Zwaag