All individuals with variants in gene AARS2

26 entries on 1 page. Showing entries 1 - 26.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00034604 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034605 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034606 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034607 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034608 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034609 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034610 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034611 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034612 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034613 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034614 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034615 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034616 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034617 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034618 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00100426 - - - M no Netherlands - - 0 - - cardiomyopathy, hypertrophic, early-onset fatal - 2 1 Rick Kamps
00208620 - - - F - Germany - - 0 - - - HP:0011446 (Abnormality of higher mental function); HP:0001308 (Tongue fasciculations); HP:0000748 (Inappropriate laughter); HP:0000157 (Abnormality of the tongue); HP:0002425 (Anarthria); HP:0002483 (Bulbar signs); HP:0040064 (Abnormality of limbs); HP:0000708 (Behavioral abnormality); HP:0007289 (Limb fasciculations) 1 1 Andreas Laner
00294120 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00294121 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 48 Mohammed Faruq
00294122 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00296574 Pat7 PubMed: Kemp 2011, PubMed: Taylor 2014 - M - United Kingdom (Great Britain) British 1m14d 0 - - ? deceased; muscle affected; central nervous system affected; heart affected; liver not affected; lactic acidosis 2 1 Johan den Dunnen
00296575 Pat8 PubMed: Taylor 2014 - M - Germany - 1m 0 - - ? deceased; muscle affected; central nervous system affected; heart affected; liver not affected; lactic acidosis 2 1 Johan den Dunnen
00296576 Pat9 PubMed: Kemp 2011, PubMed: Taylor 2014 - F yes Germany - 2m 0 - - ? deceased; muscle not affected; central nervous system not affected; heart affected; liver not affected; lactic acidosis 1 1 Johan den Dunnen
00296577 Pat10 PubMed: Taylor 2014 - F - United Kingdom (Great Britain) British 3m 0 - - ? deceased; muscle not affected; central nervous system not affected; heart affected; liver not affected; congenital lactic acidosis 2 1 Johan den Dunnen
00296578 Pat11 PubMed: Taylor 2014 - F - United Kingdom (Great Britain) British 11m 0 - - ? deceased; muscle not affected; central nervous system not affected; heart affected; liver not affected; 1 1 Johan den Dunnen
00305104 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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