ClinVar

NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)

Gene:

PPP3CA:protein phosphatase 3 catalytic subunit alpha [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4q24

Genomic location:

• Chr4: 101032322 - 101032323 (on Assembly GRCh38)
• Chr4: 101953479 - 101953480 (on Assembly GRCh37)

Preferred name:

NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)

HGVS:

• NC_000004.12:g.101032326dup
• NM_000944.5:c.1283dupMANE SELECT
• NM_001130691.2:c.1283dup
• NM_001130692.2:c.1157dup
• NP_000935.1:p.Thr429fs
• NP_001124163.1:p.Thr429fs
• NP_001124164.1:p.Thr387fs
• NC_000004.11:g.101953483dup
• NM_000944.4:c.1283dupC

This HGVS expression did not pass validation

Protein change:

T387fs

Links:

dbSNP: rs1727004803

NCBI 1000 Genomes Browser:

rs1727004803

Molecular consequence:

• NM_000944.5:c.1283dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001130691.2:c.1283dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001130692.2:c.1157dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1