Variant (rsID / SNP)

rs119462978

rs119462978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIRREL3. Location: chromosome 11, position 126,432,745. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KIRREL3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:126432745
Cytoband: 11q24.2
HGVS: NM_032531.4(KIRREL3):c.118C>T (p.Arg40Trp)
Allele change: Missense_R40W

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.