Gene entry
LARGE1
LARGE xylosyl- and glucuronyltransferase 1
- Chromosome
- 22
- Cytoband
- 22q12.3
- Variants (rsID)
- 208
LARGE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q12.3). Its official name is “LARGE xylosyl- and glucuronyltransferase 1”. The reference table lists 208 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs1046166Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
- rs16992036Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
- rs34642406Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
- rs398124184Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
- rs8142483Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
- rs86487Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
- rs12627793Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy type B6|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
- rs141089495Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
- rs141818070Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy type B6
- rs144216539Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
- rs587783731Conflicting interpretationssingle nucleotide variantMuscular dystrophy|Muscular dystrophy-dystroglycanopathy type B6
- rs74550830Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6
Other listed variants
- rs130423
- rs137466
- rs238857
- rs238865
- rs239330
- rs240073
- rs240080
- rs240343
- rs240353
- rs240358
- rs240590
- rs446869
- rs454398
- rs478038
- rs491508
- rs686137
- rs695366
- rs695504
- rs713740
- rs715487
- rs724776
- rs739026
- rs760541
- rs762058
- rs916244
- rs987640
- rs1008501
- rs1009385
- rs1009730
- rs1018786
- rs1555007
- rs1979254
- rs2016485
- rs2142550
- rs2213360
- rs2253085
- rs2267204
- rs2267222
- rs2267250
- rs2267296
- rs2267314
- rs2267327
- rs2283889
- rs2283904
- rs2283911
- rs2283933
- rs2283934
- rs2283940
- rs3819662
- rs3819671
- rs4141436
- rs4401302
- rs4820102
- rs4821173
- rs4821185
- rs5749583
- rs5749598
- rs5749617
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.