ClinVar

NM_000546.6(TP53):c.375+8G>T

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7675986 (on Assembly GRCh38)
• Chr17: 7579304 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.375+8G>T

HGVS:

• NC_000017.11:g.7675986C>A
• NG_017013.2:g.16565G>T
• NM_000546.6:c.375+8G>TMANE SELECT
• NM_001126112.3:c.375+8G>T
• NM_001126113.3:c.375+8G>T
• NM_001126114.3:c.375+8G>T
• NM_001126118.2:c.258+8G>T
• NM_001276695.3:c.258+8G>T
• NM_001276696.3:c.258+8G>T
• NM_001276760.3:c.258+8G>T
• NM_001276761.3:c.258+8G>T
• LRG_321t1:c.375+8G>T
• LRG_321:g.16565G>T
• NC_000017.10:g.7579304C>A
• NM_000546.5:c.375+8G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1597373333

NCBI 1000 Genomes Browser:

rs1597373333

Molecular consequence:

• NM_000546.6:c.375+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001126112.3:c.375+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001126113.3:c.375+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001126114.3:c.375+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001126118.2:c.258+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276695.3:c.258+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276696.3:c.258+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276760.3:c.258+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276761.3:c.258+8G>T - intron variant - [Sequence Ontology: SO:0001627]