ClinVar

NM_005676.5(RBM10):c.292C>T (p.Arg98Ter)

Gene:

RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.3

Genomic location:

• ChrX: 47171118 (on Assembly GRCh38)
• ChrX: 47030517 (on Assembly GRCh37)

Preferred name:

NM_005676.5(RBM10):c.292C>T (p.Arg98Ter)

HGVS:

• NC_000023.11:g.47171118C>T
• NG_012548.1:g.30887C>T
• NM_001204466.2:c.201+1620C>T
• NM_001204467.2:c.292C>T
• NM_001204468.2:c.487C>T
• NM_005676.5:c.292C>TMANE SELECT
• NM_152856.3:c.201+1620C>T
• NP_001191396.1:p.Arg98Ter
• NP_001191397.1:p.Arg163Ter
• NP_005667.2:p.Arg98Ter
• NC_000023.10:g.47030517C>T

This HGVS expression did not pass validation

Protein change:

R163*

Links:

dbSNP: rs1556772860

NCBI 1000 Genomes Browser:

rs1556772860

Molecular consequence:

• NM_001204466.2:c.201+1620C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_152856.3:c.201+1620C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204467.2:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001204468.2:c.487C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_005676.5:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]