ClinVar

NM_005902.4(SMAD3):c.450C>T (p.Phe150=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.33

Genomic location:

• Chr15: 67165302 (on Assembly GRCh38)
• Chr15: 67457640 (on Assembly GRCh37)

Preferred name:

NM_005902.4(SMAD3):c.450C>T (p.Phe150=)

HGVS:

• NC_000015.10:g.67165302C>T
• NG_011990.1:g.104446C>T
• NM_001145102.2:c.135C>T
• NM_001145103.2:c.318C>T
• NM_005902.4:c.450C>TMANE SELECT
• NP_001138574.1:p.Phe45=
• NP_001138575.1:p.Phe106=
• NP_005893.1:p.Phe150=
• NC_000015.9:g.67457640C>T
• NM_005902.3:c.450C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs755354518

NCBI 1000 Genomes Browser:

rs755354518

Molecular consequence:

• NM_001145102.2:c.135C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145103.2:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005902.4:c.450C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1