Variant #0000692567 (NC_000018.9:g.28966782A>G, DSG4(NM_177986.3):c.216A>G)

Chromosome 18
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.28966782A>G
DNA change (hg38) -
Published as DSG4(NM_001134453.2):c.216A>G (p.K72=)
ISCN -
DB-ID DSG4_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DSG4 NM_177986.3 -?/. - c.216A>G r.(?) p.(Lys72=)