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Variant (rsID / SNP)

rs145279594

DYM

rs145279594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYM. Location: chromosome 18, position 46,690,066. 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
18:46690066
Cytoband
18q21.1
HGVS
NM_001353214.3(DYM):c.1717C>T (p.Leu573=)
Allele change
Synonymous_L518L

Associated conditions / phenotypes

Dyggve-Melchior-Clausen syndrome|Smith-McCort dysplasia

Public references

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