ClinVar

NM_000533.5(PLP1):c.98G>T (p.Cys33Phe)

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: 103785675 (on Assembly GRCh38)
• ChrX: 103040604 (on Assembly GRCh37)

Preferred name:

NM_000533.5(PLP1):c.98G>T (p.Cys33Phe)

HGVS:

• NC_000023.11:g.103785675G>T
• NG_008863.2:g.14165G>T
• NG_016452.2:g.51608C>A
• NM_000533.5:c.98G>TMANE SELECT
• NM_001128834.3:c.98G>T
• NM_001305004.1:c.5-72G>T
• NM_199478.3:c.98G>T
• NP_000524.3:p.Cys33Phe
• NP_001122306.1:p.Cys33Phe
• NP_955772.1:p.Cys33Phe
• NC_000023.10:g.103040604G>T

This HGVS expression did not pass validation

Protein change:

C33F

Links:

dbSNP: rs1064794255

NCBI 1000 Genomes Browser:

rs1064794255

Molecular consequence:

• NM_001305004.1:c.5-72G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000533.5:c.98G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128834.3:c.98G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199478.3:c.98G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1