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Variant (rsID / SNP)

rs138427861

DYM

rs138427861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYM. Location: chromosome 18, position 46,645,157. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DYMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:46645157
Cytoband
18q21.1
HGVS
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)
Allele change
Missense_R568Q

Associated conditions / phenotypes

Smith-McCort dysplasia|Dyggve-Melchior-Clausen syndrome

Public references

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