ClinVar

NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15230951 (on Assembly GRCh38)
• Chr17: 15134268 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)

HGVS:

• NC_000017.11:g.15230951C>T
• NG_007949.1:g.39377G>A
• NM_000304.4:c.449G>AMANE SELECT
• NM_001281455.2:c.449G>A
• NM_001281456.2:c.449G>A
• NM_153321.3:c.449G>A
• NM_153322.3:c.449G>A
• NP_000295.1:p.Gly150Asp
• NP_001268384.1:p.Gly150Asp
• NP_001268385.1:p.Gly150Asp
• NP_696996.1:p.Gly150Asp
• NP_696997.1:p.Gly150Asp
• LRG_263t1:c.449G>A
• LRG_263:g.39377G>A
• NC_000017.10:g.15134268C>T
• NM_000304.2:c.449G>A
• NM_000304.3:c.449G>A
• NR_104017.2:n.544G>A
• NR_104018.2:n.444G>A
• Q01453:p.Gly150Asp

This HGVS expression did not pass validation

Protein change:

G150D

Links:

UniProtKB: Q01453#VAR_006379; dbSNP: rs879253954

NCBI 1000 Genomes Browser:

rs879253954

Molecular consequence:

• NM_000304.4:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281455.2:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281456.2:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153321.3:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153322.3:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104017.2:n.544G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104018.2:n.444G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]