ClinVar

NM_000304.4(PMP22):c.*228G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15230689 (on Assembly GRCh38)
• Chr17: 15134006 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.*228G>A

HGVS:

• NC_000017.11:g.15230689C>T
• NG_007949.1:g.39639G>A
• NM_000304.4:c.*228G>AMANE SELECT
• NM_001281455.2:c.*228G>A
• NM_001281456.2:c.*228G>A
• NM_153321.3:c.*228G>A
• NM_153322.3:c.*228G>A
• LRG_263:g.39639G>A
• NC_000017.10:g.15134006C>T
• NM_000304.3:c.*228G>A
• NR_104017.2:n.806G>A
• NR_104018.2:n.706G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1804193

NCBI 1000 Genomes Browser:

rs1804193

Molecular consequence:

• NM_000304.4:c.*228G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001281455.2:c.*228G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001281456.2:c.*228G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_153321.3:c.*228G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_153322.3:c.*228G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_104017.2:n.806G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104018.2:n.706G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]