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NM_001367624.1(ZNF469):c.10927C>T (p.Leu3643=) AND Keratoconus 1

Significance: Likely pathogenic
ClinVar: RCV000114773

Variant: NM_001367624.1(ZNF469):c.10927C>T (p.Leu3643=)

Type: Variant
Allele: NM_001367624.1(ZNF469):c.10927C>T (p.Leu3643=) 132430
Gene:
Type: single nucleotide variant
Location: Chr16: 88504805 - assembly GRCh37
Chr16: 88438397 - assembly GRCh38
References: dbSNP: 273585637

Condition

Disease: Keratoconus 1