LYRM7, LYR motif containing 7, 90624

N. diseases: 34; N. variants: 5
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777433
rs587777433 		1.000 5 131180149 missense variant G/A snv
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.800 1.000 1 2013 2013
dbSNP: rs869025602
rs869025602 		1.000 5 131187113 splice region variant -/G delins
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.700 0
dbSNP: rs869025603
rs869025603 		1.000 5 131187053 inframe insertion -/TTA delins
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.700 0
dbSNP: rs869025604
rs869025604 		1.000 5 131187079 stop gained C/T snv
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.700 0
dbSNP: rs869025605
rs869025605 		1.000 5 131180110 frameshift variant A/- delins
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.700 0