NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs)Likely pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2026β Residue 1190
NM_133259.4(LRPPRC):c.3286del (p.His1096fs)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β
β
ββ2026β Residue 1096
NM_133259.4(LRPPRC):c.2084del (p.Met695fs)Pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2026β Residue 695
NM_133259.4(LRPPRC):c.1730_1735+1delLikely pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2026
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β
β
ββ2025β Residue 575
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β
β
ββ2025β Residue 919
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β
β
ββ2025β Residue 85
NM_133259.4(LRPPRC):c.3364+2T>CLikely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2025
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β
β
ββ2025β Residue 201
NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter)Pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2025β Residue 723
NM_133259.4(LRPPRC):c.1474C>T (p.Arg492Ter)Pathogenic
Inborn genetic diseases|not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2025β Residue 492
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β
β
ββ2025β Residue 1050
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β
β
ββ2025β Residue 814
NM_133259.4(LRPPRC):c.1582+7A>GLikely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided
β
β
ββ2025
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)Pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided|LRPPRC-related disorder
β
β
ββ2025β Residue 354
NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter)Likely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2025β Residue 69
NM_133259.4(LRPPRC):c.1677+1G>TLikely pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2025
NM_133259.4(LRPPRC):c.3710-1delLikely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2025
NM_133259.4(LRPPRC):c.123del (p.Ala42fs)Pathogenic
not provided|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2025β Residue 42
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter)Likely pathogenic
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
β
β
ββ2025β Residue 1044