ClinVar

NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)

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: 178550237 (on Assembly GRCh38)
• Chr2: 179414964 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)

Other names:

p.D28893V:GAT>GTT

HGVS:

• NC_000002.12:g.178550237T>A
• NG_011618.3:g.285566A>T
• NG_051363.1:g.32411T>A
• NM_001256850.1:c.86678A>T
• NM_001267550.2:c.91601A>TMANE SELECT
• NM_003319.4:c.64406A>T
• NM_133378.4:c.83897A>T
• NM_133432.3:c.64781A>T
• NM_133437.4:c.64982A>T
• NP_001243779.1:p.Asp28893Val
• NP_001254479.2:p.Asp30534Val
• NP_003310.4:p.Asp21469Val
• NP_596869.4:p.Asp27966Val
• NP_596869.4:p.Asp27966Val
• NP_597676.3:p.Asp21594Val
• NP_597681.4:p.Asp21661Val
• LRG_391:g.285566A>T
• NC_000002.11:g.179414964T>A
• NM_003319.4:c.64406A>T
• c.83897A>T

This HGVS expression did not pass validation

Protein change:

D21469V

Links:

dbSNP: rs182549226

NCBI 1000 Genomes Browser:

rs182549226

Molecular consequence:

• NM_001256850.1:c.86678A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.91601A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.64406A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.83897A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.64781A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.64982A>T - missense variant - [Sequence Ontology: SO:0001583]