Variant (rsID / SNP)

rs1537044

rs1537044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NECTIN4. Location: chromosome 1, position 161,042,657. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NECTIN4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:161042657
Cytoband: 1q23.3
HGVS: NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)
Allele change: Missense_R443C

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.