Details for Copy Number Variant repeat on chromosome 12 repeating CAG at least 29 times and at most 33 times

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
112036797111598993
CNV TYPE repeat
LOCATION p.Q188
SEQUENCE OF INTEREST CAG
NUMBER OF REPEATS From 29 to 33
3 combinations linked to Copy Number Variant repeat on chromosome 12 repeating CAG at least 29 times and at most 33 times OLI275; OLI278; OLI281
1 disease linked to Copy Number Variant repeat on chromosome 12 repeating CAG at least 29 times and at most 33 times Amyotrophic lateral sclerosis
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