ClinVar

NM_005902.4(SMAD3):c.501C>T (p.Pro167=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.33

Genomic location:

• Chr15: 67165353 (on Assembly GRCh38)
• Chr15: 67457691 (on Assembly GRCh37)

Preferred name:

NM_005902.4(SMAD3):c.501C>T (p.Pro167=)

HGVS:

• NC_000015.10:g.67165353C>T
• NG_011990.1:g.104497C>T
• NM_001145102.2:c.186C>T
• NM_001145103.2:c.369C>T
• NM_005902.4:c.501C>TMANE SELECT
• NP_001138574.1:p.Pro62=
• NP_001138575.1:p.Pro123=
• NP_005893.1:p.Pro167=
• NC_000015.9:g.67457691C>T
• NM_005902.3:c.501C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138395233

NCBI 1000 Genomes Browser:

rs138395233

Molecular consequence:

• NM_001145102.2:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145103.2:c.369C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005902.4:c.501C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1