ClinVar

NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15239575 (on Assembly GRCh38)
• Chr17: 15142892 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)

HGVS:

• NC_000017.11:g.15239575G>A
• NG_007949.1:g.30753C>T
• NM_000304.4:c.215C>TMANE SELECT
• NM_001281455.2:c.215C>T
• NM_001281456.2:c.215C>T
• NM_001330143.2:c.215C>T
• NM_153321.3:c.215C>T
• NM_153322.3:c.215C>T
• NP_000295.1:p.Ser72Leu
• NP_001268384.1:p.Ser72Leu
• NP_001268385.1:p.Ser72Leu
• NP_001317072.1:p.Ser72Leu
• NP_696996.1:p.Ser72Leu
• NP_696997.1:p.Ser72Leu
• LRG_263t1:c.215C>T
• LRG_263:g.30753C>T
• NC_000017.10:g.15142892G>A
• NM_000304.2:c.215C>T
• NM_000304.3:c.215C>T
• NR_104017.2:n.310C>T
• NR_104018.2:n.210C>T
• Q01453:p.Ser72Leu

This HGVS expression did not pass validation

Protein change:

S72L; SER72LEU

Links:

UniProtKB: Q01453#VAR_006363; OMIM: 601097.0007; dbSNP: rs104894621

NCBI 1000 Genomes Browser:

rs104894621

Molecular consequence:

• NM_000304.4:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281455.2:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281456.2:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330143.2:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153321.3:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153322.3:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104017.2:n.310C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104018.2:n.210C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1