Variant (rsID / SNP)

rs55741253

rs55741253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLL3. Location: chromosome 19, position 39,993,470. Clinical significance in the table: Benign.

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Reference-table entries

DLL3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:39993470
Cytoband: 19q13.2
HGVS: NM_203486.3(DLL3):c.425T>A (p.Leu142Gln)
Allele change: Missense_L142Q

Associated conditions / phenotypes

Spondylocostal dysostosis 1, autosomal recessive|Syndactyly

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.