ClinVar

NM_001273.5(CHD4):c.4370+5G>A

Gene:

CHD4:chromodomain helicase DNA binding protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6582610 (on Assembly GRCh38)
• Chr12: 6691776 (on Assembly GRCh37)

Preferred name:

NM_001273.5(CHD4):c.4370+5G>A

HGVS:

• NC_000012.12:g.6582610C>T
• NG_052823.1:g.29830G>A
• NM_001273.5:c.4370+5G>AMANE SELECT
• NM_001297553.2:c.4349+5G>A
• NM_001363606.2:c.4331+5G>A
• NC_000012.11:g.6691776C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001273.5:c.4370+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001297553.2:c.4349+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363606.2:c.4331+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1