ClinVar

NM_001366285.2(TBXT):c.938C>T (p.Ser313Phe)

Gene:

TBXT:T-box transcription factor T [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q27

Genomic location:

• Chr6: 166160936 (on Assembly GRCh38)
• Chr6: 166574424 (on Assembly GRCh37)

Preferred name:

NM_001366285.2(TBXT):c.938C>T (p.Ser313Phe)

HGVS:

• NC_000006.12:g.166160936G>A
• NG_012135.1:g.12708C>T
• NM_001270484.2:c.761C>T
• NM_001366285.2:c.938C>TMANE SELECT
• NM_001366286.2:c.938C>T
• NM_003181.4:c.935C>T
• NP_001257413.1:p.Ser254Phe
• NP_001353214.1:p.Ser313Phe
• NP_001353215.1:p.Ser313Phe
• NP_003172.1:p.Ser312Phe
• NC_000006.11:g.166574424G>A
• NM_003181.2:c.935C>T

This HGVS expression did not pass validation

Protein change:

S254F

Molecular consequence:

• NM_001270484.2:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366285.2:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366286.2:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003181.4:c.935C>T - missense variant - [Sequence Ontology: SO:0001583]