Variant (rsID / SNP)

rs78759480

rs78759480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETD2. Location: chromosome 3, position 47,165,569. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SETD2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:47165569
Cytoband: 3p21.31
HGVS: NM_014159.7(SETD2):c.557C>T (p.Pro186Leu)
Allele change: Missense_P186L

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.