ClinVar

NM_005359.6(SMAD4):c.894C>T (p.Pro298=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

• Chr18: 51058446 (on Assembly GRCh38)
• Chr18: 48584816 (on Assembly GRCh37)

Preferred name:

NM_005359.6(SMAD4):c.894C>T (p.Pro298=)

HGVS:

• NC_000018.10:g.51058446C>T
• NG_013013.2:g.95407C>T
• NM_005359.6:c.894C>TMANE SELECT
• NP_005350.1:p.Pro298=
• NP_005350.1:p.Pro298=
• LRG_318t1:c.894C>T
• LRG_318:g.95407C>T
• LRG_318p1:p.Pro298=
• NC_000018.9:g.48584816C>T
• NM_005359.5:c.894C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs781519690

NCBI 1000 Genomes Browser:

rs781519690

Molecular consequence:

• NM_005359.6:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]