ClinVar

NM_000304.4(PMP22):c.179-1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15239612 (on Assembly GRCh38)
• Chr17: 15142929 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.179-1G>A

HGVS:

• NC_000017.11:g.15239612C>T
• NG_007949.1:g.30716G>A
• NM_000304.4:c.179-1G>AMANE SELECT
• NM_001281455.2:c.179-1G>A
• NM_001281456.2:c.179-1G>A
• NM_001330143.2:c.179-1G>A
• NM_153321.3:c.179-1G>A
• NM_153322.3:c.179-1G>A
• LRG_263:g.30716G>A
• NC_000017.10:g.15142929C>T
• NM_000304.3:c.179-1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1597608220

NCBI 1000 Genomes Browser:

rs1597608220

Molecular consequence:

• NM_000304.4:c.179-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001281455.2:c.179-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001281456.2:c.179-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001330143.2:c.179-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_153321.3:c.179-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_153322.3:c.179-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]