GENETIC ENCYCLOPEDIA
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NM_001367624.1(ZNF469):c.6809C>A (p.Ser2270Tyr) AND Keratoconus 1

Significance: Pathogenic
ClinVar: RCV000114785

Variant: NM_001367624.1(ZNF469):c.6809C>A (p.Ser2270Tyr)

Type: Variant
Allele: NM_001367624.1(ZNF469):c.6809C>A (p.Ser2270Tyr) 132442
Gene:
Type: single nucleotide variant
Location: Chr16: 88500687 - assembly GRCh37
Chr16: 88434279 - assembly GRCh38
References: dbSNP: 273585624

Condition

Disease: Keratoconus 1