CLHC1 Chromosome 2

Clathrin heavy chain linker domain containing 1
1 variant 1 Health Risk

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What This Gene Does
"CLNSIG=4
Gene Info
Gene Group
TSNAXIP1 domain containing
Locus Type
gene with protein product
Location
2p16.1
Ensembl
ENSG00000162994
Associated Conditions (2)
Marked Hypotonia
Waddling gait
Key Variants
RS144133542
Likely pathogenic
Marked Hypotonia, Waddling gait, Marked Hypotonia
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS144133542 Health Risk Likely pathogenic Marked Hypotonia, Waddling gait, Marked Hypotonia
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