RS121908257 CHST14

Health Risk Chr 15:40471850 snv missense variant
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What This Variant Does
"Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. [OMIM:?...
Associated Conditions
Ehlers-Danlos syndrome
musculocontractural type
musculocontractural type 1
Ehlers-Danlos syndrome
musculocontractural type
musculocontractural type 1
Population Frequencies
gnomAD ALL
0%
Other Variants in CHST14
rs397518432 rs121908258 rs267606729 rs267606730 rs267606731 rs1555410785 rs397514706 rs794726956 rs139229738 rs556002453
Ask Dr. Hemsworth about this variant