ClinVar

NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)

Gene:

SBDS:SBDS ribosome maturation factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

• Chr7: 66988472 (on Assembly GRCh38)
• Chr7: 66453459 (on Assembly GRCh37)

Preferred name:

NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)

HGVS:

• NC_000007.14:g.66988472G>A
• NG_007277.1:g.12130C>T
• NM_016038.3:c.652C>T
• NM_016038.4:c.652C>TMANE SELECT
• NP_057122.2:p.Arg218Ter
• LRG_104t1:c.652C>T
• LRG_104:g.12130C>T
• LRG_104p1:p.Arg218Ter
• NC_000007.13:g.66453459G>A
• NM_016038.2:c.652C>T
• NM_016038.4:c.652C>T

This HGVS expression did not pass validation

Protein change:

R218*

Links:

dbSNP: rs113993998

NCBI 1000 Genomes Browser:

rs113993998

Molecular consequence:

• NM_016038.4:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]