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NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu) AND Keratoconus 1

Significance: Pathogenic
ClinVar: RCV000114778

Variant: NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu)

Type: Variant
Allele: NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu) 132435
Gene:
Type: single nucleotide variant
Location: Chr16: 88496577 - assembly GRCh37
Chr16: 88430169 - assembly GRCh38
References: dbSNP: 273585618

Condition

Disease: Keratoconus 1