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GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 AND See cases

Significance: Pathogenic
ClinVar: RCV000446653

Variant: GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3

Type: Variant
Allele: GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 381502
Gene:
Type: copy number gain
Location: Chr4: 12440 - 190904441 - assembly GRCh37
References: dbVar: nsv2773339
dbVar: nssv13646928

Condition

PhenotypeInstruction: See cases