ClinVar

NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)

Gene:

SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.33

Genomic location:

• Chr15: 67181442 (on Assembly GRCh38)
• Chr15: 67473780 (on Assembly GRCh37)

Preferred name:

NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)

Other names:

p.R287Q:CGG>CAG

HGVS:

• NC_000015.10:g.67181442G>A
• NG_011990.1:g.120586G>A
• NM_001145102.2:c.545G>A
• NM_001145103.2:c.728G>A
• NM_001145104.2:c.275G>A
• NM_005902.4:c.860G>AMANE SELECT
• NP_001138574.1:p.Arg182Gln
• NP_001138575.1:p.Arg243Gln
• NP_001138576.1:p.Arg92Gln
• NP_005893.1:p.Arg287Gln
• NC_000015.9:g.67473780G>A
• NM_005902.3:c.860G>A

This HGVS expression did not pass validation

Protein change:

R182Q

Links:

dbSNP: rs730880214

NCBI 1000 Genomes Browser:

rs730880214

Molecular consequence:

• NM_001145102.2:c.545G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145103.2:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145104.2:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005902.4:c.860G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1