Variant (rsID / SNP)

rs121918427

rs121918427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NTF4. Location: chromosome 19, position 49,564,639. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NTF4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:49564639
Cytoband: 19q13.33
HGVS: NM_006179.5(NTF4):c.616C>T (p.Arg206Trp)
Allele change: Missense_R206W

Associated conditions / phenotypes

Glaucoma 1, open angle, O

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.