ClinVar

NM_000533.5(PLP1):c.578C>A (p.Thr193Asn)

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: 103787922 (on Assembly GRCh38)
• ChrX: 103042851 (on Assembly GRCh37)

Preferred name:

NM_000533.5(PLP1):c.578C>A (p.Thr193Asn)

HGVS:

• NC_000023.11:g.103787922C>A
• NG_008863.2:g.16412C>A
• NG_016452.2:g.49361G>T
• NM_000533.3:c.578C>A
• NM_000533.5:c.578C>AMANE SELECT
• NM_001128834.3:c.578C>A
• NM_001305004.1:c.413C>A
• NM_199478.3:c.473C>A
• NP_000524.3:p.Thr193Asn
• NP_001122306.1:p.Thr193Asn
• NP_001291933.1:p.Thr138Asn
• NP_955772.1:p.Thr158Asn
• NC_000023.10:g.103042851C>A

This HGVS expression did not pass validation

Protein change:

T138N

Molecular consequence:

• NM_000533.5:c.578C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128834.3:c.578C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001305004.1:c.413C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_199478.3:c.473C>A - missense variant - [Sequence Ontology: SO:0001583]