ClinVar

NM_005359.6(SMAD4):c.816G>A (p.Arg272=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

• Chr18: 51058368 (on Assembly GRCh38)
• Chr18: 48584738 (on Assembly GRCh37)

Preferred name:

NM_005359.6(SMAD4):c.816G>A (p.Arg272=)

HGVS:

• NC_000018.10:g.51058368G>A
• NG_013013.2:g.95329G>A
• NM_005359.6:c.816G>AMANE SELECT
• NP_005350.1:p.Arg272=
• NP_005350.1:p.Arg272=
• LRG_318t1:c.816G>A
• LRG_318:g.95329G>A
• LRG_318p1:p.Arg272=
• NC_000018.9:g.48584738G>A
• NM_005359.5:c.816G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1231028123

NCBI 1000 Genomes Browser:

rs1231028123

Molecular consequence:

• NM_005359.6:c.816G>A - synonymous variant - [Sequence Ontology: SO:0001819]