ClinVar

NM_001267550.2(TTN):c.4283C>T (p.Ser1428Phe)

Genes:

TTN:titin [Gene - OMIM - HGNC]
LOC101927055:uncharacterized LOC101927055 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178777901 (on Assembly GRCh38)
• Chr2: 179642628 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.4283C>T (p.Ser1428Phe)

HGVS:

• NC_000002.12:g.178777901G>A
• NG_011618.3:g.57902C>T
• NM_001256850.1:c.4283C>T
• NM_001267550.2:c.4283C>TMANE SELECT
• NM_003319.4:c.4145C>T
• NM_133378.4:c.4283C>T
• NM_133379.5:c.4283C>T
• NM_133432.3:c.4145C>T
• NM_133437.4:c.4145C>T
• NP_001243779.1:p.Ser1428Phe
• NP_001254479.1:p.Ser1428Phe
• NP_001254479.2:p.Ser1428Phe
• NP_003310.4:p.Ser1382Phe
• NP_596869.4:p.Ser1428Phe
• NP_596870.2:p.Ser1428Phe
• NP_596870.2:p.Ser1428Phe
• NP_597676.3:p.Ser1382Phe
• NP_597681.4:p.Ser1382Phe
• LRG_391t1:c.4283C>T
• LRG_391t2:c.4283C>T
• LRG_391:g.57902C>T
• LRG_391p1:p.Ser1428Phe
• LRG_391p2:p.Ser1428Phe
• NC_000002.11:g.179642628G>A
• NM_001267550.1:c.4283C>T
• NM_133379.4:c.4283C>T
• NR_120594.1:n.976G>A

This HGVS expression did not pass validation

Protein change:

S1382F

Molecular consequence:

• NM_001256850.1:c.4283C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.4283C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.4145C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.4283C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133379.5:c.4283C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.4145C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.4145C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_120594.1:n.976G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]