ClinVar

NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)

Genes:

LOC126806424:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 [Gene]
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: 178592056 (on Assembly GRCh38)
• Chr2: 179456783 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)

Other names:

p.Arg18309*

HGVS:

• NC_000002.12:g.178592056G>A
• NG_011618.3:g.243747C>T
• NG_051363.1:g.74230G>A
• NM_001256850.1:c.54925C>T
• NM_001267550.2:c.59848C>TMANE SELECT
• NM_003319.4:c.32653C>T
• NM_133378.4:c.52144C>T
• NM_133432.3:c.33028C>T
• NM_133437.4:c.33229C>T
• NP_001243779.1:p.Arg18309Ter
• NP_001254479.2:p.Arg19950Ter
• NP_003310.4:p.Arg10885Ter
• NP_596869.4:p.Arg17382Ter
• NP_597676.3:p.Arg11010Ter
• NP_597681.4:p.Arg11077Ter
• LRG_391:g.243747C>T
• NC_000002.11:g.179456783G>A
• NC_000002.11:g.179456783G>A
• NM_001256850.1:c.54925C>T
• NM_003319.4:c.32653C>T

This HGVS expression did not pass validation

Protein change:

R10885*

Links:

dbSNP: rs1559598775

NCBI 1000 Genomes Browser:

rs1559598775

Molecular consequence:

• NM_001256850.1:c.54925C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001267550.2:c.59848C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003319.4:c.32653C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133378.4:c.52144C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133432.3:c.33028C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133437.4:c.33229C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1