ClinVar

NM_000390.4(CHM):c.355C>T (p.Gln119Ter)

Genes:

CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
LOC129391306:MPRA-validated peak7401 silencer [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.2

Genomic location:

• ChrX: 85964012 (on Assembly GRCh38)
• ChrX: 85219017 (on Assembly GRCh37)

Preferred name:

NM_000390.4(CHM):c.355C>T (p.Gln119Ter)

HGVS:

• NC_000023.11:g.85964012G>A
• NG_009874.2:g.88551C>T
• NM_000390.4:c.355C>TMANE SELECT
• NM_001320959.1:c.-90C>T
• NM_001362517.1:c.-90C>T
• NM_001362518.2:c.-90C>T
• NM_001362519.1:c.-90C>T
• NP_000381.1:p.Gln119Ter
• LRG_699:g.88551C>T
• NC_000023.10:g.85219017G>A
• NM_000390.3:c.355C>T

This HGVS expression did not pass validation

Protein change:

Q119*

Links:

dbSNP: rs1930445401

NCBI 1000 Genomes Browser:

rs1930445401

Molecular consequence:

• NM_001320959.1:c.-90C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362517.1:c.-90C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362518.2:c.-90C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362519.1:c.-90C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000390.4:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]