ClinVar

NM_000546.5(TP53):c.-1635C>T

Genes:

TP53:tumor protein p53 [Gene - OMIM - HGNC]
WRAP53:WD repeat containing antisense to TP53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7688983 (on Assembly GRCh38)
• Chr17: 7592301 (on Assembly GRCh37)

Preferred name:

NM_000546.5(TP53):c.-1635C>T

HGVS:

• NC_000017.11:g.7688983G>A
• NG_017013.2:g.3568C>T
• NG_028245.1:g.7913G>A
• NM_001143990.2:c.335G>A
• NM_001143991.2:c.335G>A
• NM_001143992.2:c.335G>AMANE SELECT
• NM_018081.2:c.335G>A
• NP_001137462.1:p.Ser112Asn
• NP_001137463.1:p.Ser112Asn
• NP_001137464.1:p.Ser112Asn
• NP_060551.2:p.Ser112Asn
• LRG_321t1:c.-1635C>T
• LRG_375t1:c.335G>A
• LRG_321:g.3568C>T
• LRG_375:g.7913G>A
• LRG_375p1:p.Ser112Asn
• NC_000017.10:g.7592301G>A
• NM_000546.5:c.-1635C>T

This HGVS expression did not pass validation

Protein change:

S112N

Links:

dbSNP: rs766695794

NCBI 1000 Genomes Browser:

rs766695794

Molecular consequence:

• NM_001143990.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143991.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143992.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018081.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]