ClinVar

NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)

Genes:

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: 178583723 (on Assembly GRCh38)
• Chr2: 179448450 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)

Other names:

p.T20179I:ACA>ATA

HGVS:

• NC_000002.12:g.178583723G>A
• NG_011618.3:g.252080C>T
• NG_051363.1:g.65897G>A
• NM_001256850.1:c.60536C>T
• NM_001267550.2:c.65459C>TMANE SELECT
• NM_003319.4:c.38264C>T
• NM_133378.4:c.57755C>T
• NM_133432.3:c.38639C>T
• NM_133437.4:c.38840C>T
• NP_001243779.1:p.Thr20179Ile
• NP_001254479.2:p.Thr21820Ile
• NP_003310.4:p.Thr12755Ile
• NP_596869.4:p.Thr19252Ile
• NP_597676.3:p.Thr12880Ile
• NP_597681.4:p.Thr12947Ile
• LRG_391t1:c.65459C>T
• LRG_391:g.252080C>T
• NC_000002.11:g.179448450G>A
• NM_001267550.1:c.65459C>T
• NR_038272.1:n.2569G>A
• c.57755C>T

This HGVS expression did not pass validation

Protein change:

T12755I

Links:

dbSNP: rs56130023

NCBI 1000 Genomes Browser:

rs56130023

Molecular consequence:

• NM_001256850.1:c.60536C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.65459C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.38264C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.57755C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.38639C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.38840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_038272.1:n.2569G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

42