ClinVar

NM_001366285.2(TBXT):c.419C>T (p.Pro140Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q27

Genomic location:

• Chr6: 166166644 (on Assembly GRCh38)
• Chr6: 166580132 (on Assembly GRCh37)

Preferred name:

NM_001366285.2(TBXT):c.419C>T (p.Pro140Leu)

HGVS:

• NC_000006.12:g.166166644G>A
• NG_012135.1:g.7000C>T
• NM_001270484.2:c.419C>T
• NM_001366285.2:c.419C>TMANE SELECT
• NM_001366286.2:c.419C>T
• NM_003181.4:c.419C>T
• NP_001257413.1:p.Pro140Leu
• NP_001353214.1:p.Pro140Leu
• NP_001353215.1:p.Pro140Leu
• NP_003172.1:p.Pro140Leu
• NC_000006.11:g.166580132G>A
• NM_003181.2:c.419C>T

This HGVS expression did not pass validation

Protein change:

P140L

Molecular consequence:

• NM_001270484.2:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366285.2:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366286.2:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003181.4:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]