ClinVar

NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)

Genes:

LOC126806423:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 [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: 178579702 (on Assembly GRCh38)
• Chr2: 179444429 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)

HGVS:

• NC_000002.12:g.178579702G>A
• NG_011618.3:g.256101C>T
• NG_051363.1:g.61876G>A
• NM_001256850.1:c.62572C>T
• NM_001267550.2:c.67495C>TMANE SELECT
• NM_003319.4:c.40300C>T
• NM_133378.4:c.59791C>T
• NM_133432.3:c.40675C>T
• NM_133437.4:c.40876C>T
• NP_001243779.1:p.Arg20858Ter
• NP_001254479.2:p.Arg22499Ter
• NP_003310.4:p.Arg13434Ter
• NP_596869.4:p.Arg19931Ter
• NP_597676.3:p.Arg13559Ter
• NP_597681.4:p.Arg13626Ter
• LRG_391t1:c.67495C>T
• LRG_391:g.256101C>T
• NC_000002.11:g.179444429G>A
• NM_001267550.1:c.67495C>T
• NM_003319.4:c.40300C>T

This HGVS expression did not pass validation

Protein change:

R13434*

Links:

dbSNP: rs574660186

NCBI 1000 Genomes Browser:

rs574660186

Molecular consequence:

• NM_001256850.1:c.62572C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001267550.2:c.67495C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003319.4:c.40300C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133378.4:c.59791C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133432.3:c.40675C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133437.4:c.40876C>T - nonsense - [Sequence Ontology: SO:0001587]