ClinVar

NM_014225.6(PPP2R1A):c.333C>T (p.Ser111=)

Gene:

PPP2R1A:protein phosphatase 2 scaffold subunit Aalpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

• Chr19: 52211322 (on Assembly GRCh38)
• Chr19: 52714575 (on Assembly GRCh37)

Preferred name:

NM_014225.6(PPP2R1A):c.333C>T (p.Ser111=)

HGVS:

• NC_000019.10:g.52211322C>T
• NG_047068.1:g.26521C>T
• NG_047068.2:g.26272C>T
• NM_001363656.2:c.-205C>T
• NM_014225.6:c.333C>TMANE SELECT
• NP_055040.2:p.Ser111=
• NC_000019.9:g.52714575C>T
• NR_033500.2:n.277C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001363656.2:c.-205C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_033500.2:n.277C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_014225.6:c.333C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2