Variant (rsID / SNP)

rs120074163

rs120074163 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYM. Location: chromosome 18, position 46,783,435. Clinical significance in the table: Pathogenic.

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Reference-table entries

DYMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:46783435
Cytoband: 18q21.1
HGVS: NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr)
Allele change: Missense_N469Y

Associated conditions / phenotypes

Dyggve-Melchior-Clausen syndrome

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.