Variant (rsID / SNP)

rs149617776

rs149617776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,126,558. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DSG2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:29126558
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
Allele change: Missense_T1070M

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.