ClinVar

GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1

Genes:

• CNOT8:CCR4-NOT transcription complex subunit 8 [Gene - OMIM - HGNC]
• LARP1:La ribonucleoprotein 1, translational regulator [Gene - OMIM - HGNC]
• SAP30L:SAP30 like [Gene - OMIM - HGNC]
• FAXDC2:fatty acid hydroxylase domain containing 2 [Gene - OMIM - HGNC]
• GEMIN5:gem nuclear organelle associated protein 5 [Gene - OMIM - HGNC]
• HAND1:heart and neural crest derivatives expressed 1 [Gene - OMIM - HGNC]
• KIF4B:kinesin family member 4B [Gene - OMIM - HGNC]
• MRPL22:mitochondrial ribosomal protein L22 [Gene - OMIM - HGNC]
• GALNT10:polypeptide N-acetylgalactosaminyltransferase 10 [Gene - OMIM - HGNC]
• SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

5q33.2-33.3

Genomic location:

Chr5: 153785664 - 156189369 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1

HGVS:

NC_000005.9:g.(?_153785664)_(156189369_?)del

This HGVS expression did not pass validation