ClinVar

NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)

Gene:

SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

• Chr18: 51076662 (on Assembly GRCh38)
• Chr18: 48603032 (on Assembly GRCh37)

Preferred name:

NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)

HGVS:

• NC_000018.10:g.51076662C>T
• NG_013013.2:g.113623C>T
• NM_005359.6:c.1333C>TMANE SELECT
• NP_005350.1:p.Arg445Ter
• NP_005350.1:p.Arg445Ter
• LRG_318t1:c.1333C>T
• LRG_318:g.113623C>T
• LRG_318p1:p.Arg445Ter
• NC_000018.9:g.48603032C>T
• NM_005359.5:c.1333C>T
• p.R445*

This HGVS expression did not pass validation

Protein change:

R445*; ARG445TER

Links:

OMIM: 600993.0014; dbSNP: rs377767360

NCBI 1000 Genomes Browser:

rs377767360

Molecular consequence:

• NM_005359.6:c.1333C>T - nonsense - [Sequence Ontology: SO:0001587]