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NM_001367624.1(ZNF469):c.290C>T (p.Pro97Leu) AND Keratoconus 1

Significance: Pathogenic
ClinVar: RCV000114779

Variant: NM_001367624.1(ZNF469):c.290C>T (p.Pro97Leu)

Type: Variant
Allele: NM_001367624.1(ZNF469):c.290C>T (p.Pro97Leu) 132436
Gene:
Type: single nucleotide variant
Location: Chr16: 88494168 - assembly GRCh37
Chr16: 88427760 - assembly GRCh38
References: dbSNP: 273585617

Condition

Disease: Keratoconus 1