ClinVar

NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr)

Genes:

MEA1:male-enhanced antigen 1 [Gene - OMIM - HGNC]
PPP2R5D:protein phosphatase 2 regulatory subunit B'delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43011239 (on Assembly GRCh38)
• Chr6: 42978977 (on Assembly GRCh37)

Preferred name:

NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr)

HGVS:

• NC_000006.12:g.43011239C>T
• NG_050636.1:g.31741C>T
• NM_001270476.2:c.1309C>T
• NM_006245.4:c.1762C>TMANE SELECT
• NM_014623.4:c.*1231G>AMANE SELECT
• NM_180976.3:c.1666C>T
• NM_180977.3:c.1444C>T
• NP_001257405.1:p.His437Tyr
• NP_006236.1:p.His588Tyr
• NP_851307.1:p.His556Tyr
• NP_851308.1:p.His482Tyr
• NC_000006.11:g.42978977C>T
• NM_006245.3:c.1762C>T

This HGVS expression did not pass validation

Protein change:

H437Y

Links:

dbSNP: rs1363040405

NCBI 1000 Genomes Browser:

rs1363040405

Molecular consequence:

• NM_014623.4:c.*1231G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001270476.2:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006245.4:c.1762C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_180976.3:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_180977.3:c.1444C>T - missense variant - [Sequence Ontology: SO:0001583]