ClinVar

NM_000533.5(PLP1):c.5-15C>G

Genes:

RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.2

Genomic location:

• ChrX: 103785567 (on Assembly GRCh38)
• ChrX: 103040496 (on Assembly GRCh37)

Preferred name:

NM_000533.5(PLP1):c.5-15C>G

HGVS:

• NC_000023.11:g.103785567C>G
• NG_008863.2:g.14057C>G
• NG_016452.2:g.51716G>C
• NM_000533.5:c.5-15C>GMANE SELECT
• NM_001128834.3:c.5-15C>G
• NM_001305004.1:c.5-180C>G
• NM_199478.3:c.5-15C>G
• NC_000023.10:g.103040496C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_000533.5:c.5-15C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128834.3:c.5-15C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001305004.1:c.5-180C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_199478.3:c.5-15C>G - intron variant - [Sequence Ontology: SO:0001627]