ClinVar

NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178746079 (on Assembly GRCh38)
• Chr2: 179610806 (on Assembly GRCh37)

Preferred name:

NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)

HGVS:

• NC_000002.12:g.178746079G>A
• NG_011618.3:g.89724C>T
• NM_001256850.1:c.10361-4158C>T
• NM_001267550.2:c.11312-4158C>TMANE SELECT
• NM_003319.4:c.10223-4158C>T
• NM_133378.4:c.10360+7045C>T
• NM_133379.5:c.16321C>T
• NM_133432.3:c.10598-4158C>T
• NM_133437.4:c.10799-4158C>T
• NP_596870.2:p.Arg5441Ter
• LRG_391t2:c.16321C>T
• LRG_391:g.89724C>T
• NC_000002.11:g.179610806G>A
• NM_133379.4:c.16321C>T
• NM_133379.5:c.16321C>T

This HGVS expression did not pass validation

Protein change:

R5441*

Links:

dbSNP: rs201273719

NCBI 1000 Genomes Browser:

rs201273719

Molecular consequence:

• NM_001256850.1:c.10361-4158C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001267550.2:c.11312-4158C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003319.4:c.10223-4158C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133378.4:c.10360+7045C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.10598-4158C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.10799-4158C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133379.5:c.16321C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1