ClinVar

NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)

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: 178604999 (on Assembly GRCh38)
• Chr2: 179469726 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)

HGVS:

• NC_000002.12:g.178604999C>T
• NG_011618.3:g.230804G>A
• NG_051363.1:g.87173C>T
• NM_001256850.1:c.49255G>A
• NM_001267550.2:c.54178G>AMANE SELECT
• NM_003319.4:c.26983G>A
• NM_133378.4:c.46474G>A
• NM_133432.3:c.27358G>A
• NM_133437.4:c.27559G>A
• NP_001243779.1:p.Val16419Ile
• NP_001254479.2:p.Val18060Ile
• NP_003310.4:p.Val8995Ile
• NP_596869.4:p.Val15492Ile
• NP_597676.3:p.Val9120Ile
• NP_597681.4:p.Val9187Ile
• LRG_391:g.230804G>A
• NC_000002.11:g.179469726C>T
• NM_003319.4:c.26983G>A
• NR_038272.1:n.4186C>T

This HGVS expression did not pass validation

Protein change:

V15492I

Links:

dbSNP: rs190574498

NCBI 1000 Genomes Browser:

rs190574498

Molecular consequence:

• NM_001256850.1:c.49255G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.54178G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.26983G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.46474G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.27358G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.27559G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_038272.1:n.4186C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1