ClinVar

NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178560865 (on Assembly GRCh38)
• Chr2: 179425592 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)

HGVS:

• NC_000002.12:g.178560865G>A
• NG_011618.3:g.274938C>T
• NG_051363.1:g.43039G>A
• NM_001256850.1:c.80344C>T
• NM_001267550.2:c.85267C>TMANE SELECT
• NM_003319.4:c.58072C>T
• NM_133378.4:c.77563C>T
• NM_133432.3:c.58447C>T
• NM_133437.4:c.58648C>T
• NP_001243779.1:p.Arg26782Ter
• NP_001254479.2:p.Arg28423Ter
• NP_003310.4:p.Arg19358Ter
• NP_596869.4:p.Arg25855Ter
• NP_597676.3:p.Arg19483Ter
• NP_597681.4:p.Arg19550Ter
• LRG_391:g.274938C>T
• NC_000002.11:g.179425592G>A
• NM_003319.4:c.58072C>T

This HGVS expression did not pass validation

Protein change:

R19358*

Links:

dbSNP: rs769664554

NCBI 1000 Genomes Browser:

rs769664554

Molecular consequence:

• NM_001256850.1:c.80344C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001267550.2:c.85267C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003319.4:c.58072C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133378.4:c.77563C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133432.3:c.58447C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133437.4:c.58648C>T - nonsense - [Sequence Ontology: SO:0001587]