ClinVar

NM_000546.6(TP53):c.60A>T (p.Ser20=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7676535 (on Assembly GRCh38)
• Chr17: 7579853 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.60A>T (p.Ser20=)

HGVS:

• NC_000017.11:g.7676535T>A
• NG_017013.2:g.16016A>T
• NM_000546.6:c.60A>TMANE SELECT
• NM_001126112.3:c.60A>T
• NM_001126113.3:c.60A>T
• NM_001126114.3:c.60A>T
• NM_001126118.2:c.-175A>T
• NM_001276695.3:c.-58A>T
• NM_001276696.3:c.-58A>T
• NM_001276760.3:c.-58A>T
• NM_001276761.3:c.-58A>T
• NP_000537.3:p.Ser20=
• NP_000537.3:p.Ser20=
• NP_001119584.1:p.Ser20=
• NP_001119585.1:p.Ser20=
• NP_001119586.1:p.Ser20=
• LRG_321t1:c.60A>T
• LRG_321:g.16016A>T
• LRG_321p1:p.Ser20=
• NC_000017.10:g.7579853T>A
• NM_000546.4:c.60A>T
• NM_000546.5:c.60A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs786201754

NCBI 1000 Genomes Browser:

rs786201754

Molecular consequence:

• NM_001126118.2:c.-175A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276695.3:c.-58A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276696.3:c.-58A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276760.3:c.-58A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276761.3:c.-58A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000546.6:c.60A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126112.3:c.60A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126113.3:c.60A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126114.3:c.60A>T - synonymous variant - [Sequence Ontology: SO:0001819]