ClinVar

NM_000304.4(PMP22):c.317C>A (p.Ala106Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15239473 (on Assembly GRCh38)
• Chr17: 15142790 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.317C>A (p.Ala106Asp)

HGVS:

• NC_000017.11:g.15239473G>T
• NG_007949.1:g.30855C>A
• NM_000304.4:c.317C>AMANE SELECT
• NM_001281455.2:c.317C>A
• NM_001281456.2:c.317C>A
• NM_001330143.2:c.317C>A
• NM_153321.3:c.317C>A
• NM_153322.3:c.317C>A
• NP_000295.1:p.Ala106Asp
• NP_001268384.1:p.Ala106Asp
• NP_001268385.1:p.Ala106Asp
• NP_001317072.1:p.Ala106Asp
• NP_696996.1:p.Ala106Asp
• NP_696997.1:p.Ala106Asp
• LRG_263:g.30855C>A
• NC_000017.10:g.15142790G>T
• NC_000017.10:g.15142790G>T
• NM_000304.3:c.317C>A
• NR_104017.2:n.412C>A
• NR_104018.2:n.312C>A

This HGVS expression did not pass validation

Protein change:

A106D

Links:

dbSNP: rs1597607537

NCBI 1000 Genomes Browser:

rs1597607537

Molecular consequence:

• NM_000304.4:c.317C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281455.2:c.317C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281456.2:c.317C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330143.2:c.317C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153321.3:c.317C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153322.3:c.317C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104017.2:n.412C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104018.2:n.312C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]