ClinVar

NM_004456.5(EZH2):c.626-118T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 148827384 (on Assembly GRCh38)
• Chr7: 148524476 (on Assembly GRCh37)

Preferred name:

NM_004456.5(EZH2):c.626-118T>C

HGVS:

• NC_000007.14:g.148827384A>G
• NG_032043.1:g.61966T>C
• NM_001203247.2:c.626-118T>C
• NM_001203248.2:c.599-118T>C
• NM_001203249.2:c.599-118T>C
• NM_004456.5:c.626-118T>CMANE SELECT
• NM_152998.3:c.509-118T>C
• LRG_531:g.61966T>C
• NC_000007.13:g.148524476A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs115691097

NCBI 1000 Genomes Browser:

rs115691097

Molecular consequence:

• NM_001203247.2:c.626-118T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203248.2:c.599-118T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203249.2:c.599-118T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_004456.5:c.626-118T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_152998.3:c.509-118T>C - intron variant - [Sequence Ontology: SO:0001627]