RS138119149 POLR1C

Health Risk Chr 6:44304511 snv missense variant
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=5
Associated Conditions
Combined oxidative phosphorylation defect type 8
Inborn genetic diseases
Pulmonary hypoplasia
Mitochondrial disease
Leukoencephalopathy
progressive
with ovarian failure
AARS2-related disorder
Combined oxidative phosphorylation defect type 8
Inborn genetic diseases
Pulmonary hypoplasia
Mitochondrial disease
Leukoencephalopathy
progressive
with ovarian failure
ClinVar Assertions (2)
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
· 16 submitters
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
· 16 submitters
Population Frequencies
gnomAD ALL
100%
Other Variants in POLR1C
rs191582628 rs1335699710 rs387907020 rs2127686639 rs141156009 rs371802902 rs796052124 rs796052125 rs875989826 rs796052126
Ask Dr. Hemsworth about this variant