Variant #0000868417 (NC_000018.9:g.28919885T>A, NM_001942.2:c.1584T>A (DSG1))

Chromosome 18
Allele Unknown
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.28919885T>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID DSG1_000026
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Date created 2022-05-18 16:15:01 +02:00 (CEST)
Date last edited 2022-09-26 12:22:42 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DSG1 NM_001942.2 +/. - c.1584T>A r.(?) p.(Tyr528Ter)


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