ClinVar

NM_004456.5(EZH2):c.2196-109del

Gene:

EZH2:enhancer of zeste 2 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 148807815 (on Assembly GRCh38)
• Chr7: 148504907 (on Assembly GRCh37)

Preferred name:

NM_004456.5(EZH2):c.2196-109del

HGVS:

• NC_000007.14:g.148807836del
• NG_032043.1:g.81535del
• NM_001203247.2:c.2181-109del
• NM_001203248.2:c.2154-109del
• NM_001203249.2:c.2028-109del
• NM_004456.5:c.2196-109delMANE SELECT
• NM_152998.3:c.2064-109del
• LRG_531:g.81535del
• NC_000007.13:g.148504928del

This HGVS expression did not pass validation

Links:

dbSNP: rs35866517

NCBI 1000 Genomes Browser:

rs35866517

Molecular consequence:

• NM_001203247.2:c.2181-109del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203248.2:c.2154-109del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203249.2:c.2028-109del - intron variant - [Sequence Ontology: SO:0001627]
• NM_004456.5:c.2196-109del - intron variant - [Sequence Ontology: SO:0001627]
• NM_152998.3:c.2064-109del - intron variant - [Sequence Ontology: SO:0001627]