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NM_001018057.1(DKK3):c.505C>A (p.Gln169Lys) AND Marfanoid habitus and intellectual disability

Significance: Uncertain significance
ClinVar: RCV000850437

Variant: NM_001018057.1(DKK3):c.505C>A (p.Gln169Lys)

Type: Variant
Allele: NM_001018057.1(DKK3):c.505C>A (p.Gln169Lys) 677364
Gene:
Type: single nucleotide variant
Location: Chr11: 11989965 - assembly GRCh37
Chr11: 11968418 - assembly GRCh38

Condition

Disease: Marfanoid habitus and intellectual disability