RS121908192 GFER

Health Risk Chr 16:1985990 snv missense variant
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What This Variant Does
"The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy wit...
Associated Conditions
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Inborn genetic diseases
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Inborn genetic diseases
Population Frequencies
gnomAD ALL
0%
Other Variants in GFER
rs375792737 rs863224028 rs771809901 rs183638147 rs373135339 rs1555486560 rs1597063051 rs1597063303 rs201762532 rs1028553365
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