ClinVar

NM_001267550.2(TTN):c.106454C>T (p.Ser35485Phe)

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: 178530037 (on Assembly GRCh38)
• Chr2: 179394764 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.106454C>T (p.Ser35485Phe)

HGVS:

• NC_000002.12:g.178530037G>A
• NG_011618.3:g.305766C>T
• NG_051363.1:g.12211G>A
• NM_001256850.1:c.101531C>T
• NM_001267550.2:c.106454C>TMANE SELECT
• NM_003319.4:c.79259C>T
• NM_133378.4:c.98750C>T
• NM_133432.3:c.79634C>T
• NM_133437.4:c.79835C>T
• NP_001243779.1:p.Ser33844Phe
• NP_001254479.1:p.Ser35485Phe
• NP_001254479.2:p.Ser35485Phe
• NP_003310.4:p.Ser26420Phe
• NP_596869.4:p.Ser32917Phe
• NP_597676.3:p.Ser26545Phe
• NP_597681.4:p.Ser26612Phe
• LRG_391t1:c.106454C>T
• LRG_391:g.305766C>T
• LRG_391p1:p.Ser35485Phe
• NC_000002.11:g.179394764G>A
• NM_001267550.1:c.106454C>T

This HGVS expression did not pass validation

Protein change:

S26420F

Molecular consequence:

• NM_001256850.1:c.101531C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.106454C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.79259C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.98750C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.79634C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.79835C>T - missense variant - [Sequence Ontology: SO:0001583]