ClinVar

NM_005359.6(SMAD4):c.930C>T (p.Phe310=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

• Chr18: 51059891 (on Assembly GRCh38)
• Chr18: 48586261 (on Assembly GRCh37)

Preferred name:

NM_005359.6(SMAD4):c.930C>T (p.Phe310=)

HGVS:

• NC_000018.10:g.51059891C>T
• NG_013013.2:g.96852C>T
• NM_001407041.1:c.930C>T
• NM_001407042.1:c.930C>T
• NM_001407043.1:c.930C>T
• NM_005359.6:c.930C>TMANE SELECT
• NP_001393970.1:p.Phe310=
• NP_001393971.1:p.Phe310=
• NP_001393972.1:p.Phe310=
• NP_005350.1:p.Phe310=
• NP_005350.1:p.Phe310=
• LRG_318t1:c.930C>T
• LRG_318:g.96852C>T
• LRG_318p1:p.Phe310=
• NC_000018.9:g.48586261C>T
• NM_005359.5:c.930C>T
• NR_176264.1:n.1530C>T
• NR_176265.1:n.1468C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_176264.1:n.1530C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176265.1:n.1468C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001407041.1:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407042.1:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407043.1:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005359.6:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]