RS28931614 FGFR3
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What This Variant Does
"rs28931614, also known as G380R, Gly380Arg, and c.1138G>
Associated Conditions
Achondroplasia
Epidermal nevus
14 conditions
Inborn genetic diseases
Hypochondroplasia
Connective tissue disorder
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
FGFR3-related disorder
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Muenke syndrome
Intellectual disability
Crouzon syndrome-acanthosis nigricans syndrome
Thanatophoric dysplasia type 1
Achondroplasia
Hypochondroplasia
Other Variants in FGFR3