ClinVar

NM_003628.6(PKP4):c.2115A>T (p.Glu705Asp)

Genes:

PKP4-AS1:PKP4 antisense RNA 1 [Gene - HGNC]
PKP4:plakophilin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

• Chr2: 158661354 (on Assembly GRCh38)
• Chr2: 159517866 (on Assembly GRCh37)

Preferred name:

NM_003628.6(PKP4):c.2115A>T (p.Glu705Asp)

HGVS:

• NC_000002.12:g.158661354A>T
• NM_001005476.4:c.2115A>T
• NM_001304969.3:c.2112A>T
• NM_001304970.3:c.1086A>T
• NM_001304971.2:c.2115A>T
• NM_001377218.1:c.2115A>T
• NM_001377219.1:c.2112A>T
• NM_001377220.1:c.2112A>T
• NM_001377221.1:c.2112A>T
• NM_001377222.1:c.2109A>T
• NM_001377223.1:c.2109A>T
• NM_001377224.1:c.2106A>T
• NM_001377225.1:c.2115A>T
• NM_001377226.1:c.2112A>T
• NM_003628.6:c.2115A>TMANE SELECT
• NP_001005476.1:p.Glu705Asp
• NP_001291898.1:p.Glu704Asp
• NP_001291899.1:p.Glu362Asp
• NP_001291900.1:p.Glu705Asp
• NP_001364147.1:p.Glu705Asp
• NP_001364148.1:p.Glu704Asp
• NP_001364149.1:p.Glu704Asp
• NP_001364150.1:p.Glu704Asp
• NP_001364151.1:p.Glu703Asp
• NP_001364152.1:p.Glu703Asp
• NP_001364153.1:p.Glu702Asp
• NP_001364154.1:p.Glu705Asp
• NP_001364155.1:p.Glu704Asp
• NP_003619.2:p.Glu705Asp
• NC_000002.11:g.159517866A>T
• NM_003628.3:c.2115A>T
• NR_135242.1:n.1050T>A

This HGVS expression did not pass validation

Protein change:

E362D

Molecular consequence:

• NM_001005476.4:c.2115A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304969.3:c.2112A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304970.3:c.1086A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304971.2:c.2115A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377218.1:c.2115A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377219.1:c.2112A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377220.1:c.2112A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377221.1:c.2112A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377222.1:c.2109A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377223.1:c.2109A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377224.1:c.2106A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377225.1:c.2115A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377226.1:c.2112A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003628.6:c.2115A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_135242.1:n.1050T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]