ClinVar

NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178734746 (on Assembly GRCh38)
• Chr2: 179599473 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)

Other names:

p.V4743I:GTC>ATC

HGVS:

• NC_000002.12:g.178734746C>T
• NG_011618.3:g.101057G>A
• NM_001256850.1:c.14227G>A
• NM_001267550.2:c.15178G>AMANE SELECT
• NM_003319.4:c.13282+3336G>A
• NM_133378.4:c.11446G>A
• NM_133432.3:c.13657+3336G>A
• NM_133437.4:c.13858+3336G>A
• NP_001243779.1:p.Val4743Ile
• NP_001254479.2:p.Val5060Ile
• NP_596869.4:p.Val3816Ile
• LRG_391:g.101057G>A
• NC_000002.11:g.179599473C>T
• NM_001267550.1:c.15178G>A
• c.11446G>A

This HGVS expression did not pass validation

Protein change:

V3816I

Links:

dbSNP: rs72648929

NCBI 1000 Genomes Browser:

rs72648929

Molecular consequence:

• NM_003319.4:c.13282+3336G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+3336G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+3336G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.14227G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.15178G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.11446G>A - missense variant - [Sequence Ontology: SO:0001583]