ClinVar

NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 66781068 (on Assembly GRCh38)
• Chr15: 67073406 (on Assembly GRCh37)

Preferred name:

NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)

HGVS:

• NC_000015.10:g.66781068C>T
• NG_012244.1:g.83733C>T
• NG_012244.2:g.83733C>T
• NM_005585.5:c.1024C>TMANE SELECT
• NP_005576.3:p.Arg342Cys
• NC_000015.9:g.67073406C>T
• NM_005585.4:c.1024C>T
• NR_027654.2:n.2179C>T

This HGVS expression did not pass validation

Protein change:

R342C

Links:

dbSNP: rs1333091798

NCBI 1000 Genomes Browser:

rs1333091798

Molecular consequence:

• NM_005585.5:c.1024C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027654.2:n.2179C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]