ClinVar

NM_001367943.1(TCF7L2):c.565C>T (p.Pro189Ser)

Gene:

TCF7L2:transcription factor 7 like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.3

Genomic location:

• Chr10: 113141196 (on Assembly GRCh38)
• Chr10: 114900955 (on Assembly GRCh37)

Preferred name:

NM_001367943.1(TCF7L2):c.565C>T (p.Pro189Ser)

HGVS:

• NC_000010.11:g.113141196C>T
• NG_012631.1:g.195947C>T
• NM_001146274.2:c.565C>T
• NM_001146283.2:c.637C>T
• NM_001146284.2:c.496C>T
• NM_001146285.2:c.496C>T
• NM_001146286.2:c.496C>T
• NM_001198525.2:c.496C>T
• NM_001198526.2:c.496C>T
• NM_001198527.2:c.496C>T
• NM_001198528.2:c.496C>T
• NM_001198529.2:c.496C>T
• NM_001198530.2:c.394C>T
• NM_001198531.2:c.565C>T
• NM_001349870.2:c.136C>T
• NM_001349871.1:c.16C>T
• NM_001363501.2:c.565C>T
• NM_001367943.1:c.565C>TMANE SELECT
• NM_030756.5:c.496C>T
• NP_001139746.1:p.Pro189Ser
• NP_001139755.1:p.Pro213Ser
• NP_001139756.1:p.Pro166Ser
• NP_001139757.1:p.Pro166Ser
• NP_001139758.1:p.Pro166Ser
• NP_001185454.1:p.Pro166Ser
• NP_001185455.1:p.Pro166Ser
• NP_001185456.1:p.Pro166Ser
• NP_001185457.1:p.Pro166Ser
• NP_001185458.1:p.Pro166Ser
• NP_001185459.1:p.Pro132Ser
• NP_001185460.1:p.Pro189Ser
• NP_001336799.1:p.Pro46Ser
• NP_001336800.1:p.Pro6Ser
• NP_001350430.1:p.Pro189Ser
• NP_001354872.1:p.Pro189Ser
• NP_110383.2:p.Pro166Ser
• NC_000010.10:g.114900955C>T
• NM_001146274.1:c.565C>T

This HGVS expression did not pass validation

Protein change:

P132S

Molecular consequence:

• NM_001146274.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146283.2:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146284.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146285.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146286.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198525.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198526.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198527.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198528.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198529.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198530.2:c.394C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198531.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349870.2:c.136C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349871.1:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363501.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367943.1:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_030756.5:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]