ClinVar

GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1

Genes:

• DHX38:DEAH-box helicase 38 [Gene - OMIM - HGNC]
• HYDIN:HYDIN axonemal central pair apparatus protein [Gene - OMIM - HGNC]
• IST1:IST1 factor associated with ESCRT-III [Gene - OMIM - HGNC]
• MARVELD3:MARVEL domain containing 3 [Gene - OMIM - HGNC]
• MTSS2:MTSS I-BAR domain containing 2 [Gene - OMIM - HGNC]
• PHLPP2:PH domain and leucine rich repeat protein phosphatase 2 [Gene - OMIM - HGNC]
• VAC14:VAC14 component of PIKFYVE complex [Gene - OMIM - HGNC]
• AP1G1:adaptor related protein complex 1 subunit gamma 1 [Gene - OMIM - HGNC]
• ATXN1L:ataxin 1 like [Gene - OMIM - HGNC]
• CALB2:calbindin 2 [Gene - OMIM - HGNC]
• CMTR2:cap methyltransferase 2 [Gene - OMIM - HGNC]
• CHST4:carbohydrate sulfotransferase 4 [Gene - HGNC]
• DHODH:dihydroorotate dehydrogenase (quinone) [Gene - OMIM - HGNC]
• HPR:haptoglobin-related protein [Gene - OMIM - HGNC]
• HP:haptoglobin [Gene - OMIM - HGNC]
• IL34:interleukin 34 [Gene - OMIM - HGNC]
• PMFBP1:polyamine modulated factor 1 binding protein 1 [Gene - OMIM - HGNC]
• PKD1L3:polycystin 1 like 3, transient receptor potential channel interacting [Gene - OMIM - HGNC]
• TXNL4B:thioredoxin like 4B [Gene - OMIM - HGNC]
• TAT:tyrosine aminotransferase [Gene - OMIM - HGNC]
• ZFHX3:zinc finger homeobox 3 [Gene - OMIM - HGNC]
• ZNF19:zinc finger protein 19 [Gene - OMIM - HGNC]
• ZNF23:zinc finger protein 23 [Gene - OMIM - HGNC]
• ZNF821:zinc finger protein 821 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

16q22.1-22.2

Genomic location:

Chr16: 70646969 - 72849701 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1

HGVS:

NC_000016.9:g.(?_70646969)_(72849701_?)del

This HGVS expression did not pass validation