Variant (rsID / SNP)

rs121918428

rs121918428 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NTF4. Location: chromosome 19, position 49,564,638. Clinical significance in the table: Pathogenic.

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Reference-table entries

NTF4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:49564638
Cytoband: 19q13.33
HGVS: NM_006179.5(NTF4):c.617G>A (p.Arg206Gln)
Allele change: Missense_R206Q

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.