ClinVar

NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)

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: 178618210 (on Assembly GRCh38)
• Chr2: 179482937 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)

Other names:

p.V13182I:GTA>ATA

HGVS:

• NC_000002.12:g.178618210C>T
• NG_011618.3:g.217593G>A
• NG_051363.1:g.100384C>T
• NM_001256850.1:c.42325G>A
• NM_001267550.2:c.47248G>AMANE SELECT
• NM_003319.4:c.20053G>A
• NM_133378.4:c.39544G>A
• NM_133432.3:c.20428G>A
• NM_133437.4:c.20629G>A
• NP_001243779.1:p.Val14109Ile
• NP_001254479.2:p.Val15750Ile
• NP_003310.4:p.Val6685Ile
• NP_596869.4:p.Val13182Ile
• NP_597676.3:p.Val6810Ile
• NP_597681.4:p.Val6877Ile
• LRG_391t1:c.47248G>A
• LRG_391:g.217593G>A
• NC_000002.11:g.179482937C>T
• NM_001267550.1:c.47248G>A
• c.39544G>A

This HGVS expression did not pass validation

Protein change:

V13182I

Links:

dbSNP: rs72677232

NCBI 1000 Genomes Browser:

rs72677232

Molecular consequence:

• NM_001256850.1:c.42325G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.47248G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.20053G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.39544G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.20428G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.20629G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1