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GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1 AND See cases

Significance: Likely pathogenic
ClinVar: RCV000140691

Variant: GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1

Type: Variant
Allele: GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1 161771
Gene:
Type: copy number loss
Location: Chr2: 64587095 - 69876311 - assembly GRCh38
Chr2: 64814229 - 70103443 - assembly GRCh37
Chr2: 64667733 - 69956947 - assembly NCBI36
Chr2: 64587095 - 69876311 - assembly GRCh38
References: dbVar: nsv931918
dbVar: nssv1610088

Condition

PhenotypeInstruction: See cases