Variant (rsID / SNP)

rs79006549

rs79006549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NECTIN3. Location: chromosome 3, position 110,841,054. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NECTIN3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:110841054
Cytoband: 3q13.13
HGVS: NM_015480.3(NECTIN3):c.886A>C (p.Asn296His)
Allele change: Missense_N296H

Associated conditions / phenotypes

Developmental cataract

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.