ClinVar

NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)

Gene:

TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201363391 (on Assembly GRCh38)
• Chr1: 201332519 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)

HGVS:

• NC_000001.11:g.201363391G>A
• NG_007556.1:g.19287C>T
• NM_000364.4:c.505C>T
• NM_001001430.3:c.475C>T
• NM_001001431.3:c.475C>T
• NM_001001432.3:c.460C>T
• NM_001276345.2:c.505C>TMANE SELECT
• NM_001276346.2:c.385C>T
• NM_001276347.2:c.475C>T
• NP_000355.2:p.Arg169Ter
• NP_001001430.1:p.Arg159Ter
• NP_001001431.1:p.Arg159Ter
• NP_001001432.1:p.Arg154Ter
• NP_001263274.1:p.Arg169Ter
• NP_001263275.1:p.Arg129Ter
• NP_001263276.1:p.Arg159Ter
• LRG_431t1:c.505C>T
• LRG_431:g.19287C>T
• LRG_431p1:p.Arg169Ter
• NC_000001.10:g.201332519G>A
• NM_001001430.1:c.475C>T
• NM_001001430.2:c.475C>T
• c.475C>T
• p.Arg159X

This HGVS expression did not pass validation

Protein change:

R129*

Links:

dbSNP: rs397516469

NCBI 1000 Genomes Browser:

rs397516469

Molecular consequence:

• NM_000364.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001001430.3:c.475C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001001431.3:c.475C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001001432.3:c.460C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276345.2:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276346.2:c.385C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276347.2:c.475C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1