ClinVar

NM_003722.5(TP63):c.325-18743A>G

Genes:

LOC111162621:DeltaNp63 promoter of tumor protein p63 [Gene]
TP63:tumor protein p63 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q28

Genomic location:

• Chr3: 189789529 (on Assembly GRCh38)
• Chr3: 189507318 (on Assembly GRCh37)

Preferred name:

NM_003722.5(TP63):c.325-18743A>G

HGVS:

• NC_000003.12:g.189789529A>G
• NG_007550.3:g.197784A>G
• NG_055552.1:g.3017A>G
• NM_001114978.2:c.325-18743A>G
• NM_001114979.2:c.325-18743A>G
• NM_001329144.2:c.325-18743A>G
• NM_001329148.2:c.325-18743A>G
• NM_001329964.2:c.319-18743A>G
• NM_003722.5:c.325-18743A>GMANE SELECT
• LRG_428t1:c.325-18743A>G
• LRG_428:g.197784A>G
• NC_000003.11:g.189507318A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1515500

NCBI 1000 Genomes Browser:

rs1515500

Molecular consequence:

• NM_001114978.2:c.325-18743A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114979.2:c.325-18743A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001329144.2:c.325-18743A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001329148.2:c.325-18743A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001329964.2:c.319-18743A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_003722.5:c.325-18743A>G - intron variant - [Sequence Ontology: SO:0001627]