ClinVar

NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178732260 (on Assembly GRCh38)
• Chr2: 179596987 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)

HGVS:

• NC_000002.12:g.178732260G>A
• NG_011618.3:g.103543C>T
• NM_001256850.1:c.15758C>T
• NM_001267550.2:c.16709C>TMANE SELECT
• NM_003319.4:c.13282+5822C>T
• NM_133378.4:c.12977C>T
• NM_133432.3:c.13657+5822C>T
• NM_133437.4:c.13858+5822C>T
• NP_001243779.1:p.Thr5253Ile
• NP_001254479.2:p.Thr5570Ile
• NP_596869.4:p.Thr4326Ile
• LRG_391:g.103543C>T
• NC_000002.11:g.179596987G>A

This HGVS expression did not pass validation

Protein change:

T4326I

Links:

dbSNP: rs535319438

NCBI 1000 Genomes Browser:

rs535319438

Molecular consequence:

• NM_003319.4:c.13282+5822C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+5822C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+5822C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.15758C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.16709C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.12977C>T - missense variant - [Sequence Ontology: SO:0001583]