ClinVar

GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3

Genes:

• FPGT-TNNI3K:FPGT-TNNI3K readthrough [Gene - HGNC]
• LHX8:LIM homeobox 8 [Gene - OMIM - HGNC]
• RABGGTB:Rab geranylgeranyltransferase subunit beta [Gene - OMIM - HGNC]
• ST6GALNAC3:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 [Gene - OMIM - HGNC]
• ST6GALNAC5:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 [Gene - OMIM - HGNC]
• TNNI3K:TNNI3 interacting kinase [Gene - OMIM - HGNC]
• ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
• ASB17:ankyrin repeat and SOCS box containing 17 [Gene - OMIM - HGNC]
• CRYZ:crystallin zeta [Gene - OMIM - HGNC]
• FPGT:fucose-1-phosphate guanylyltransferase [Gene - OMIM - HGNC]
• ERICH3:glutamate rich 3 [Gene - HGNC]
• LRRIQ3:leucine rich repeats and IQ motif containing 3 [Gene - OMIM - HGNC]
• MSH4:mutS homolog 4 [Gene - OMIM - HGNC]
• NEGR1:neuronal growth regulator 1 [Gene - OMIM - HGNC]
• SLC44A5:solute carrier family 44 member 5 [Gene - HGNC]
• TYW3:tRNA-yW synthesizing protein 3 homolog [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

1p31.1

Genomic location:

Chr1: 72578280 - 77429541 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3

HGVS:

This HGVS expression did not pass validation

Observations:

1