ClinVar

NM_000304.4(PMP22):c.-34-5C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15260766 (on Assembly GRCh38)
• Chr17: 15164083 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.-34-5C>T

HGVS:

• NC_000017.11:g.15260766G>A
• NG_007949.1:g.9562C>T
• NM_000304.4:c.-34-5C>TMANE SELECT
• NM_001281455.2:c.-34-5C>T
• NM_001281456.2:c.-30-9C>T
• NM_001330143.2:c.-34-5C>T
• NM_153321.3:c.-34-5C>T
• NM_153322.3:c.-39C>T
• LRG_263t1:c.-34-5C>T
• LRG_263:g.9562C>T
• NC_000017.10:g.15164083G>A
• NM_000304.2:c.-34-5C>T
• NM_000304.3:c.-34-5C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs375105159

NCBI 1000 Genomes Browser:

rs375105159

Molecular consequence:

• NM_153322.3:c.-39C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000304.4:c.-34-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281455.2:c.-34-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281456.2:c.-30-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330143.2:c.-34-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_153321.3:c.-34-5C>T - intron variant - [Sequence Ontology: SO:0001627]