ClinVar

NM_005359.6(SMAD4):c.905-11C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

• Chr18: 51059855 (on Assembly GRCh38)
• Chr18: 48586225 (on Assembly GRCh37)

Preferred name:

NM_005359.6(SMAD4):c.905-11C>T

HGVS:

• NC_000018.10:g.51059855C>T
• NG_013013.2:g.96816C>T
• NM_001407041.1:c.905-11C>T
• NM_001407042.1:c.905-11C>T
• NM_001407043.1:c.905-11C>T
• NM_005359.6:c.905-11C>TMANE SELECT
• LRG_318:g.96816C>T
• NC_000018.9:g.48586225C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001407041.1:c.905-11C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407042.1:c.905-11C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407043.1:c.905-11C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005359.6:c.905-11C>T - intron variant - [Sequence Ontology: SO:0001627]