ClinVar

NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15230953 (on Assembly GRCh38)
• Chr17: 15134270 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)

HGVS:

• NC_000017.11:g.15230953G>T
• NG_007949.1:g.39375C>A
• NM_000304.4:c.447C>AMANE SELECT
• NM_001281455.2:c.447C>A
• NM_001281456.2:c.447C>A
• NM_153321.3:c.447C>A
• NM_153322.3:c.447C>A
• NP_000295.1:p.Ser149Arg
• NP_001268384.1:p.Ser149Arg
• NP_001268385.1:p.Ser149Arg
• NP_696996.1:p.Ser149Arg
• NP_696997.1:p.Ser149Arg
• LRG_263t1:c.447C>A
• LRG_263:g.39375C>A
• NC_000017.10:g.15134270G>T
• NM_000304.2:c.447C>A
• NM_000304.3:c.447C>A
• NM_153322.1:c.447C>A
• NR_104017.2:n.542C>A
• NR_104018.2:n.442C>A
• Q01453:p.Ser149Arg

This HGVS expression did not pass validation

Protein change:

S149R

Links:

UniProtKB: Q01453#VAR_029970; dbSNP: rs775019409

NCBI 1000 Genomes Browser:

rs775019409

Molecular consequence:

• NM_000304.4:c.447C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281455.2:c.447C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281456.2:c.447C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153321.3:c.447C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153322.3:c.447C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104017.2:n.542C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104018.2:n.442C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]