ClinVar

NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)

Gene:

PKP2:plakophilin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

• Chr12: 32802552 (on Assembly GRCh38)
• Chr12: 32955486 (on Assembly GRCh37)

Preferred name:

NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)

HGVS:

• NC_000012.12:g.32802552G>A
• NG_009000.1:g.99295C>T
• NM_001005242.3:c.2018C>TMANE SELECT
• NM_004572.4:c.2150C>T
• NP_001005242.2:p.Pro673Leu
• NP_001005242.2:p.Pro673Leu
• NP_004563.2:p.Pro717Leu
• NP_004563.2:p.Pro717Leu
• LRG_398t1:c.2150C>T
• LRG_398:g.99295C>T
• LRG_398p1:p.Pro717Leu
• NC_000012.11:g.32955486G>A
• NM_001005242.2:c.2018C>T
• NM_004572.3:c.2150C>T

This HGVS expression did not pass validation

Protein change:

P673L

Links:

dbSNP: rs144018320

NCBI 1000 Genomes Browser:

rs144018320

Molecular consequence:

• NM_001005242.3:c.2018C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004572.4:c.2150C>T - missense variant - [Sequence Ontology: SO:0001583]