ClinVar

NM_001005242.3(PKP2):c.951G>A (p.Ala317=)

Gene:

PKP2:plakophilin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

• Chr12: 32877929 (on Assembly GRCh38)
• Chr12: 33030863 (on Assembly GRCh37)

Preferred name:

NM_001005242.3(PKP2):c.951G>A (p.Ala317=)

HGVS:

• NC_000012.12:g.32877929C>T
• NG_009000.1:g.23918G>A
• NM_001005242.3:c.951G>AMANE SELECT
• NM_004572.4:c.951G>A
• NP_001005242.2:p.Ala317=
• NP_004563.2:p.Ala317=
• NP_004563.2:p.Ala317=
• LRG_398t1:c.951G>A
• LRG_398:g.23918G>A
• LRG_398p1:p.Ala317=
• NC_000012.11:g.33030863C>T
• NM_004572.3:c.951G>A
• c.951G>A
• p.Ala317Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs61729382

NCBI 1000 Genomes Browser:

rs61729382

Molecular consequence:

• NM_001005242.3:c.951G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004572.4:c.951G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1