ClinVar

NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)

Gene:

CHM:CHM Rab escort protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.2

Genomic location:

• ChrX: 85879001 (on Assembly GRCh38)
• ChrX: 85134006 (on Assembly GRCh37)

Preferred name:

NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)

HGVS:

• NC_000023.11:g.85879001G>A
• NG_009874.2:g.173562C>T
• NM_000390.4:c.1573C>TMANE SELECT
• NM_001320959.1:c.1129C>T
• NM_001362517.1:c.1129C>T
• NM_001362518.2:c.1129C>T
• NM_001362519.1:c.1129C>T
• NP_000381.1:p.Gln525Ter
• NP_001307888.1:p.Gln377Ter
• NP_001349446.1:p.Gln377Ter
• NP_001349447.1:p.Gln377Ter
• NP_001349448.1:p.Gln377Ter
• LRG_699:g.173562C>T
• NC_000023.10:g.85134006G>A

This HGVS expression did not pass validation

Protein change:

Q377*

Links:

dbSNP: rs1603236385

NCBI 1000 Genomes Browser:

rs1603236385

Molecular consequence:

• NM_000390.4:c.1573C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001320959.1:c.1129C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001362517.1:c.1129C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001362518.2:c.1129C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001362519.1:c.1129C>T - nonsense - [Sequence Ontology: SO:0001587]