ClinVar

NM_000546.6(TP53):c.204G>A (p.Glu68=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7676165 (on Assembly GRCh38)
• Chr17: 7579483 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.204G>A (p.Glu68=)

HGVS:

• NC_000017.11:g.7676165C>T
• NG_017013.2:g.16386G>A
• NM_000546.6:c.204G>AMANE SELECT
• NM_001126112.3:c.204G>A
• NM_001126113.3:c.204G>A
• NM_001126114.3:c.204G>A
• NM_001126118.2:c.87G>A
• NM_001276695.3:c.87G>A
• NM_001276696.3:c.87G>A
• NM_001276760.3:c.87G>A
• NM_001276761.3:c.87G>A
• NP_000537.3:p.Glu68=
• NP_000537.3:p.Glu68=
• NP_001119584.1:p.Glu68=
• NP_001119585.1:p.Glu68=
• NP_001119586.1:p.Glu68=
• NP_001119590.1:p.Glu29=
• NP_001263624.1:p.Glu29=
• NP_001263625.1:p.Glu29=
• NP_001263689.1:p.Glu29=
• NP_001263690.1:p.Glu29=
• LRG_321t1:c.204G>A
• LRG_321:g.16386G>A
• LRG_321p1:p.Glu68=
• NC_000017.10:g.7579483C>T
• NM_000546.4:c.204G>A
• NM_000546.5:c.204G>A
• p.E68E

This HGVS expression did not pass validation

Links:

dbSNP: rs746814615

NCBI 1000 Genomes Browser:

rs746814615

Molecular consequence:

• NM_000546.6:c.204G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126112.3:c.204G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126113.3:c.204G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126114.3:c.204G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126118.2:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276695.3:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276696.3:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276760.3:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276761.3:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]