Variant (rsID / SNP)

rs115859828

rs115859828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETD2. Location: chromosome 3, position 47,163,971. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SETD2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:47163971
Cytoband: 3p21.31
HGVS: NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)
Allele change: Missense_N719D

Associated conditions / phenotypes

Luscan-Lumish syndrome

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.