GENETIC ENCYCLOPEDIA
ABOUT US    

   

GRCh37/hg19 12q24.31(chr12:123404920-124192840) AND See cases

Significance: Likely pathogenic
ClinVar: RCV000446571

Variant: GRCh37/hg19 12q24.31(chr12:123404920-124192840)

Type: Variant
Allele: GRCh37/hg19 12q24.31(chr12:123404920-124192840) 380806
Gene:
Type: copy number gain
Location: Chr12: 123404920 - 124192840 - assembly GRCh37
References: dbVar: nsv2769439
dbVar: nssv13639821

Condition

PhenotypeInstruction: See cases