GENETIC ENCYCLOPEDIA
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NM_001367624.1(ZNF469):c.720G>A (p.Glu240=) AND Keratoconus 1

Significance: Likely pathogenic
ClinVar: RCV000114786

Variant: NM_001367624.1(ZNF469):c.720G>A (p.Glu240=)

Type: Variant
Allele: NM_001367624.1(ZNF469):c.720G>A (p.Glu240=) 132443
Gene:
Type: single nucleotide variant
Location: Chr16: 88494598 - assembly GRCh37
Chr16: 88428190 - assembly GRCh38
References: dbSNP: 273585632

Condition

Disease: Keratoconus 1