ClinVar

GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1

Genes:

• DHX9:DExH-box helicase 9 [Gene - OMIM - HGNC]
• NPL:N-acetylneuraminate pyruvate lyase [Gene - OMIM - HGNC]
• SHCBP1L:SHC binding and spindle associated 1 like [Gene - OMIM - HGNC]
• GLUL:glutamate-ammonia ligase [Gene - OMIM - HGNC]
• LAMC1:laminin subunit gamma 1 [Gene - OMIM - HGNC]
• RGS16:regulator of G protein signaling 16 [Gene - OMIM - HGNC]
• RGS8:regulator of G protein signaling 8 [Gene - OMIM - HGNC]
• RGSL1:regulator of G protein signaling like 1 [Gene - OMIM - HGNC]
• RNASEL:ribonuclease L [Gene - OMIM - HGNC]
• TEDDM1:transmembrane epididymal protein 1 [Gene - HGNC]
• ZNF648:zinc finger protein 648 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1q25.3

Genomic location:

Chr1: 181863430 - 183148056 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1

HGVS:

NC_000001.10:g.(?_181863430)_(183148056_?)del

This HGVS expression did not pass validation

Observations:

1