Variant (rsID / SNP)

rs267606991

rs267606991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NECTIN4. Location: chromosome 1, position 161,046,145. Clinical significance in the table: Pathogenic.

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Reference-table entries

NECTIN4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:161046145
Cytoband: 1q23.3
HGVS: NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln)
Allele change: Missense_R284Q

Associated conditions / phenotypes

Ectodermal dysplasia-syndactyly syndrome 1

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.