ClinVar

NM_005902.4(SMAD3):c.480C>A (p.Ile160=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.33

Genomic location:

• Chr15: 67165332 (on Assembly GRCh38)
• Chr15: 67457670 (on Assembly GRCh37)

Preferred name:

NM_005902.4(SMAD3):c.480C>A (p.Ile160=)

HGVS:

• NC_000015.10:g.67165332C>A
• NG_011990.1:g.104476C>A
• NM_001145102.2:c.165C>A
• NM_001145103.2:c.348C>A
• NM_005902.4:c.480C>AMANE SELECT
• NP_001138574.1:p.Ile55=
• NP_001138575.1:p.Ile116=
• NP_005893.1:p.Ile160=
• NC_000015.9:g.67457670C>A
• NM_005902.3:c.480C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1566991810

NCBI 1000 Genomes Browser:

rs1566991810

Molecular consequence:

• NM_001145102.2:c.165C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145103.2:c.348C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005902.4:c.480C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1