ClinVar

NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)

Gene:

PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15260672 (on Assembly GRCh38)
• Chr17: 15163989 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)

HGVS:

• NC_000017.11:g.15260672A>G
• NG_007949.1:g.9656T>C
• NM_000304.4:c.56T>CMANE SELECT
• NM_001281455.2:c.56T>C
• NM_001281456.2:c.56T>C
• NM_001330143.2:c.56T>C
• NM_153321.3:c.56T>C
• NM_153322.3:c.56T>C
• NP_000295.1:p.Leu19Pro
• NP_001268384.1:p.Leu19Pro
• NP_001268385.1:p.Leu19Pro
• NP_001317072.1:p.Leu19Pro
• NP_696996.1:p.Leu19Pro
• NP_696997.1:p.Leu19Pro
• LRG_263:g.9656T>C
• NC_000017.10:g.15163989A>G
• NM_000304.3:c.56T>C

This HGVS expression did not pass validation

Protein change:

L19P

Links:

dbSNP: rs1597635666

NCBI 1000 Genomes Browser:

rs1597635666

Molecular consequence:

• NM_000304.4:c.56T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281455.2:c.56T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281456.2:c.56T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330143.2:c.56T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_153321.3:c.56T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_153322.3:c.56T>C - missense variant - [Sequence Ontology: SO:0001583]