ClinVar

GRCh37/hg19 1q32.1(chr1:204954317-205346803)x1

Genes:

• NUAK2:NUAK family kinase 2 [Gene - OMIM - HGNC]
• RBBP5:RB binding protein 5, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
• CNTN2:contactin 2 [Gene - OMIM - HGNC]
• DSTYK:dual serine/threonine and tyrosine protein kinase [Gene - OMIM - HGNC]
• KLHDC8A:kelch domain containing 8A [Gene - OMIM - HGNC]
• NFASC:neurofascin [Gene - OMIM - HGNC]
• TMCC2:transmembrane and coiled-coil domain family 2 [Gene - OMIM - HGNC]
• TMEM81:transmembrane protein 81 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1q32.1

Genomic location:

Chr1: 204954317 - 205346803 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1q32.1(chr1:204954317-205346803)x1

HGVS:

NC_000001.10:g.(?_204954317)_(205346803_?)del

This HGVS expression did not pass validation