ClinVar

NM_000546.6(TP53):c.375+1G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7675993 (on Assembly GRCh38)
• Chr17: 7579311 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.375+1G>C

HGVS:

• NC_000017.11:g.7675993C>G
• NG_017013.2:g.16558G>C
• NM_000546.6:c.375+1G>CMANE SELECT
• NM_001126112.3:c.375+1G>C
• NM_001126113.3:c.375+1G>C
• NM_001126114.3:c.375+1G>C
• NM_001126118.2:c.258+1G>C
• NM_001276695.3:c.258+1G>C
• NM_001276696.3:c.258+1G>C
• NM_001276760.3:c.258+1G>C
• NM_001276761.3:c.258+1G>C
• NM_001407262.1:c.375+1G>C
• NM_001407263.1:c.258+1G>C
• NM_001407264.1:c.375+1G>C
• NM_001407265.1:c.258+1G>C
• NM_001407266.1:c.375+1G>C
• NM_001407267.1:c.258+1G>C
• NM_001407268.1:c.375+1G>C
• NM_001407269.1:c.258+1G>C
• NM_001407270.1:c.375+1G>C
• NM_001407271.1:c.258+1G>C
• LRG_321t1:c.375+1G>C
• LRG_321:g.16558G>C
• NC_000017.10:g.7579311C>G
• NM_000546.4:c.375+1G>C
• NM_000546.5:c.375+1G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1567555445

Molecular consequence:

• NM_000546.6:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001126112.3:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001126113.3:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001126114.3:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001126118.2:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001276695.3:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001276696.3:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001276760.3:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001276761.3:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407262.1:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407263.1:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407264.1:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407265.1:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407266.1:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407267.1:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407268.1:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407269.1:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407270.1:c.375+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407271.1:c.258+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]