ClinVar

NM_001080517.3(SETD5):c.2724+45C>T

Gene:

SETD5:SET domain containing 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 9464717 (on Assembly GRCh38)
• Chr3: 9506401 (on Assembly GRCh37)

Preferred name:

NM_001080517.3(SETD5):c.2724+45C>T

HGVS:

• NC_000003.12:g.9464717C>T
• NG_034132.1:g.72018C>T
• NM_001080517.3:c.2724+45C>TMANE SELECT
• NM_001292043.2:c.2430+45C>T
• NM_001349451.2:c.2430+45C>T
• NC_000003.11:g.9506401C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001080517.3:c.2724+45C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001292043.2:c.2430+45C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349451.2:c.2430+45C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1