Variant (rsID / SNP)

rs114378922

rs114378922 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIRREL3. Location: chromosome 11, position 126,316,772. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KIRREL3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:126316772
Cytoband: 11q24.2
HGVS: NM_032531.4(KIRREL3):c.1007G>A (p.Arg336Gln)
Allele change: Missense_R336Q

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 4

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.