ClinVar

NM_002852.4(PTX3):c.803C>T (p.Thr268Ile)

Genes:

PTX3:pentraxin 3 [Gene - OMIM - HGNC]
VEPH1:ventricular zone expressed PH domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.32

Genomic location:

• Chr3: 157442636 (on Assembly GRCh38)
• Chr3: 157160425 (on Assembly GRCh37)

Preferred name:

NM_002852.4(PTX3):c.803C>T (p.Thr268Ile)

HGVS:

• NC_000003.12:g.157442636C>T
• NG_051000.1:g.10846C>T
• NM_001167911.2:c.530-14148G>A
• NM_001167912.2:c.530-14148G>AMANE SELECT
• NM_002852.4:c.803C>TMANE SELECT
• NM_024621.2:c.530-14148G>A
• NP_002843.2:p.Thr268Ile
• NC_000003.11:g.157160425C>T
• NM_002852.3:c.803C>T

This HGVS expression did not pass validation

Protein change:

T268I

Molecular consequence:

• NM_001167911.2:c.530-14148G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167912.2:c.530-14148G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_024621.2:c.530-14148G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002852.4:c.803C>T - missense variant - [Sequence Ontology: SO:0001583]