Variant (rsID / SNP)

rs61750844

rs61750844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLL4. Location: chromosome 15, position 41,228,857. Clinical significance in the table: Pathogenic.

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Reference-table entries

DLL4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:41228857
Cytoband: 15q15.1
HGVS: NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter)
Allele change: Nonsense_R558X

Associated conditions / phenotypes

Adams-Oliver syndrome|Adams-Oliver syndrome 6

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.