ClinVar

NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)

Genes:

LOC126806422:BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 [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: 178575970 (on Assembly GRCh38)
• Chr2: 179440697 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)

Other names:

p.R21747*:CGA>TGA

HGVS:

• NC_000002.12:g.178575970G>A
• NG_011618.3:g.259833C>T
• NG_051363.1:g.58144G>A
• NM_001256850.1:c.65239C>T
• NM_001267550.2:c.70162C>TMANE SELECT
• NM_003319.4:c.42967C>T
• NM_133378.4:c.62458C>T
• NM_133432.3:c.43342C>T
• NM_133437.4:c.43543C>T
• NP_001243779.1:p.Arg21747Ter
• NP_001254479.2:p.Arg23388Ter
• NP_003310.4:p.Arg14323Ter
• NP_596869.4:p.Arg20820Ter
• NP_597676.3:p.Arg14448Ter
• NP_597681.4:p.Arg14515Ter
• LRG_391:g.259833C>T
• NC_000002.11:g.179440697G>A
• NM_001267550.1:c.70162C>T
• NM_003319.4:c.42967C>T
• p.Arg20820*

This HGVS expression did not pass validation

Protein change:

R14323*

Links:

dbSNP: rs781540455

NCBI 1000 Genomes Browser:

rs781540455

Molecular consequence:

• NM_001256850.1:c.65239C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001267550.2:c.70162C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003319.4:c.42967C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133378.4:c.62458C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133432.3:c.43342C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133437.4:c.43543C>T - nonsense - [Sequence Ontology: SO:0001587]