ClinVar

NM_001005337.3(PKP1):c.906C>T (p.Asn302=)

Gene:

PKP1:plakophilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201317631 (on Assembly GRCh38)
• Chr1: 201286759 (on Assembly GRCh37)

Preferred name:

NM_001005337.3(PKP1):c.906C>T (p.Asn302=)

HGVS:

• NC_000001.11:g.201317631C>T
• NG_023337.1:g.39180C>T
• NG_023337.2:g.39127C>T
• NM_000299.4:c.906C>T
• NM_001005337.3:c.906C>TMANE SELECT
• NP_000290.2:p.Asn302=
• NP_001005337.1:p.Asn302=
• NC_000001.10:g.201286759C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000299.4:c.906C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005337.3:c.906C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1