Variant (rsID / SNP)

rs120074164

rs120074164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYM. Location: chromosome 18, position 46,906,063. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DYMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:46906063
Cytoband: 18q21.1
HGVS: NM_001353214.3(DYM):c.259G>A (p.Glu87Lys)
Allele change: Missense_E87K

Associated conditions / phenotypes

Smith-McCort dysplasia 1

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.