ClinVar

NM_005585.5(SMAD6):c.1108C>T (p.Gln370Ter)

Gene:

SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 66781152 (on Assembly GRCh38)
• Chr15: 67073490 (on Assembly GRCh37)

Preferred name:

NM_005585.5(SMAD6):c.1108C>T (p.Gln370Ter)

HGVS:

• NC_000015.10:g.66781152C>T
• NG_012244.2:g.83817C>T
• NM_005585.5:c.1108C>TMANE SELECT
• NP_005576.3:p.Gln370Ter
• NC_000015.9:g.67073490C>T
• NR_027654.2:n.2263C>T

This HGVS expression did not pass validation

Protein change:

Q370*

Links:

dbSNP: rs2140681546

NCBI 1000 Genomes Browser:

rs2140681546

Molecular consequence:

• NR_027654.2:n.2263C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_005585.5:c.1108C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1