ClinVar

NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)

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: 43007265 (on Assembly GRCh38)
• Chr6: 42975003 (on Assembly GRCh37)

Preferred name:

NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)

HGVS:

• NC_000006.12:g.43007265G>A
• NG_050636.1:g.27767G>A
• NM_001270476.2:c.139G>A
• NM_006245.4:c.592G>AMANE SELECT
• NM_180976.3:c.496G>A
• NM_180977.3:c.274G>A
• NP_001257405.1:p.Glu47Lys
• NP_006236.1:p.Glu198Lys
• NP_006236.1:p.Glu198Lys
• NP_851307.1:p.Glu166Lys
• NP_851308.1:p.Glu92Lys
• NC_000006.11:g.42975003G>A
• NM_001270476.2:c.139G>A
• NM_006245.2:c.592G>A
• NM_006245.3:c.592G>A
• Q14738:p.Glu198Lys
• p.E198K

This HGVS expression did not pass validation

Protein change:

E166K; GLU198LYS

Links:

UniProtKB: Q14738#VAR_073708; OMIM: 601646.0001

Molecular consequence:

• NM_001270476.2:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006245.4:c.592G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_180976.3:c.496G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_180977.3:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]