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GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 AND See cases

Significance: Pathogenic
ClinVar: RCV000142527

Variant: GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1

Type: Variant
Allele: GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 164214
Gene:
Type: copy number loss
Location: Chr6: 64549655 - 83426791 - assembly GRCh38
Chr6: 65259548 - 84136510 - assembly GRCh37
Chr6: 65316269 - 84193229 - assembly NCBI36
Chr6: 64549655 - 83426791 - assembly GRCh38
References: dbVar: nsv498057
dbVar: nssv584438

Condition

PhenotypeInstruction: See cases