Variant (rsID / SNP)

rs141847082

rs141847082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETD2. Location: chromosome 3, position 47,129,678. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SETD2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:47129678
Cytoband: 3p21.31
HGVS: NM_014159.7(SETD2):c.5202G>C (p.Gln1734His)
Allele change: Missense_Q1734H

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.