ClinVar

NM_002819.5(PTBP1):c.845C>T (p.Ser282Phe)

Gene:

PTBP1:polypyrimidine tract binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 805140 (on Assembly GRCh38)
• Chr19: 805140 (on Assembly GRCh37)

Preferred name:

NM_002819.5(PTBP1):c.845C>T (p.Ser282Phe)

HGVS:

• NC_000019.10:g.805140C>T
• NM_001411140.1:c.851C>T
• NM_002819.5:c.845C>TMANE SELECT
• NM_031990.4:c.845C>T
• NM_031991.4:c.845C>T
• NP_001398069.1:p.Ser284Phe
• NP_002810.1:p.Ser282Phe
• NP_114367.1:p.Ser282Phe
• NP_114368.1:p.Ser282Phe
• NC_000019.9:g.805140C>T
• NM_002819.4:c.845C>T

This HGVS expression did not pass validation

Protein change:

S282F

Molecular consequence:

• NM_001411140.1:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002819.5:c.845C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_031990.4:c.845C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_031991.4:c.845C>T - missense variant - [Sequence Ontology: SO:0001583]