ClinVar

GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1

Genes:

• CIBAR1:CBY1 interacting BAR domain containing 1 [Gene - OMIM - HGNC]
• GEM:GTP binding protein overexpressed in skeletal muscle [Gene - OMIM - HGNC]
• NDUFAF6:NADH:ubiquinone oxidoreductase complex assembly factor 6 [Gene - OMIM - HGNC]
• RAD54B:RAD54 homolog B [Gene - OMIM - HGNC]
• RBM12B:RNA binding motif protein 12B [Gene - HGNC]
• CDH17:cadherin 17 [Gene - OMIM - HGNC]
• CFAP418:cilia and flagella associated protein 418 [Gene - OMIM - HGNC]
• CCNE2:cyclin E2 [Gene - OMIM - HGNC]
• DPY19L4:dpy-19 like 4 [Gene - OMIM - HGNC]
• ESRP1:epithelial splicing regulatory protein 1 [Gene - OMIM - HGNC]
• FSBP:fibrinogen silencer binding protein [Gene - OMIM - HGNC]
• INTS8:integrator complex subunit 8 [Gene - OMIM - HGNC]
• LINC02906:long intergenic non-protein coding RNA 2906 [Gene - HGNC]
• PLEKHF2:pleckstrin homology and FYVE domain containing 2 [Gene - OMIM - HGNC]
• PDP1:pyruvate dehydrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
• TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]
• TRIQK:triple QxxK/R motif containing [Gene - HGNC]
• TP53INP1:tumor protein p53 inducible nuclear protein 1 [Gene - OMIM - HGNC]
• VIRMA:vir like m6A methyltransferase associated [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

8q22.1

Genomic location:

Chr8: 93391781 - 96572606 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1

HGVS:

NC_000008.10:g.(?_93391781)_(96572606_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13648767; dbVar: nsv2769577

Observations:

1