ClinVar

GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)

Genes:

• ATP6V0D2:ATPase H+ transporting V0 subunit d2 [Gene - OMIM - HGNC]
• DCAF4L2:DDB1 and CUL4 associated factor 4 like 2 [Gene - HGNC]
• E2F5:E2F transcription factor 5 [Gene - OMIM - HGNC]
• RALYL:RALY RNA binding protein like [Gene - OMIM - HGNC]
• WWP1:WW domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
• PKIA:cAMP-dependent protein kinase inhibitor alpha [Gene - OMIM - HGNC]
• CA13:carbonic anhydrase 13 [Gene - OMIM - HGNC]
• CA1:carbonic anhydrase 1 [Gene - OMIM - HGNC]
• CA2:carbonic anhydrase 2 [Gene - OMIM - HGNC]
• CA3:carbonic anhydrase 3 [Gene - OMIM - HGNC]
• CHMP4C:charged multivesicular body protein 4C [Gene - OMIM - HGNC]
• CPNE3:copine 3 [Gene - OMIM - HGNC]
• CNBD1:cyclic nucleotide binding domain containing 1 [Gene - HGNC]
• CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]
• FABP12:fatty acid binding protein 12 [Gene - OMIM - HGNC]
• FABP4:fatty acid binding protein 4 [Gene - OMIM - HGNC]
• FABP5:fatty acid binding protein 5 [Gene - OMIM - HGNC]
• FABP9:fatty acid binding protein 9 [Gene - HGNC]
• HEY1:hes related family bHLH transcription factor with YRPW motif 1 [Gene - OMIM - HGNC]
• IMPA1:inositol monophosphatase 1 [Gene - OMIM - HGNC]
• IL7:interleukin 7 [Gene - OMIM - HGNC]
• LRRCC1:leucine rich repeat and coiled-coil centrosomal protein 1 [Gene - OMIM - HGNC]
• MRPS28:mitochondrial ribosomal protein S28 [Gene - OMIM - HGNC]
• PMP2:peripheral myelin protein 2 [Gene - OMIM - HGNC]
• PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]
• PAG1:phosphoprotein membrane anchor with glycosphingolipid microdomains 1 [Gene - OMIM - HGNC]
• PSKH2:protein serine kinase H2 [Gene - HGNC]
• RMDN1:regulator of microtubule dynamics 1 [Gene - OMIM - HGNC]
• RBIS:ribosomal biogenesis factor [Gene - HGNC]
• SLC10A5:solute carrier family 10 member 5 [Gene - OMIM - HGNC]
• SLC7A13:solute carrier family 7 member 13 [Gene - OMIM - HGNC]
• SNX16:sorting nexin 16 [Gene - OMIM - HGNC]
• STMN2:stathmin 2 [Gene - OMIM - HGNC]
• TPD52:tumor protein D52 [Gene - OMIM - HGNC]
• ZFAND1:zinc finger AN1-type containing 1 [Gene - HGNC]
• ZC2HC1A:zinc finger C2HC-type containing 1A [Gene - HGNC]
• ZBTB10:zinc finger and BTB domain containing 10 [Gene - OMIM - HGNC]
• ZNF704:zinc finger protein 704 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

8q21.11-21.3

Genomic location:

Chr8: 77906471 - 88917707 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)

HGVS:

NC_000008.10:g.(?_77906471)_(88917707_?)del

This HGVS expression did not pass validation

Observations:

1