ClinVar

GRCh37/hg19 16p13.3(chr16:85880-546267)x3

Genes:

• DECR2:2,4-dienoyl-CoA reductase 2 [Gene - OMIM - HGNC]
• LUC7L:LUC7 like [Gene - OMIM - HGNC]
• MPG:N-methylpurine DNA glycosylase [Gene - OMIM - HGNC]
• NME4:NME/NM23 nucleoside diphosphate kinase 4 [Gene - OMIM - HGNC]
• NPRL3:NPR3 like, GATOR1 complex subunit [Gene - OMIM - HGNC]
• RAB11FIP3:RAB11 family interacting protein 3 [Gene - OMIM - HGNC]
• POLR3K:RNA polymerase III subunit K [Gene - OMIM - HGNC]
• ARHGDIG:Rho GDP dissociation inhibitor gamma [Gene - OMIM - HGNC]
• AXIN1:axin 1 [Gene - OMIM - HGNC]
• FAM234A:family with sequence similarity 234 member A [Gene - HGNC]
• HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
• HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
• HBM:hemoglobin subunit mu [Gene - OMIM - HGNC]
• HBQ1:hemoglobin subunit theta 1 [Gene - OMIM - HGNC]
• HBZ:hemoglobin subunit zeta [Gene - OMIM - HGNC]
• MRPL28:mitochondrial ribosomal protein L28 [Gene - OMIM - HGNC]
• PGAP6:post-GPI attachment to proteins 6 [Gene - OMIM - HGNC]
• PDIA2:protein disulfide isomerase family A member 2 [Gene - OMIM - HGNC]
• RGS11:regulator of G protein signaling 11 [Gene - OMIM - HGNC]
• RHBDF1:rhomboid 5 homolog 1 [Gene - OMIM - HGNC]
• SNRNP25:small nuclear ribonucleoprotein U11/U12 subunit 25 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

16p13.3

Genomic location:

Chr16: 85880 - 546267 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16p13.3(chr16:85880-546267)x3

HGVS:

This HGVS expression did not pass validation

Links:

dbVar: nssv13648513; dbVar: nsv2778288

Observations:

1