ClinVar

NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178799566 (on Assembly GRCh38)
• Chr2: 179664293 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)

Other names:

p.R279W:CGG>TGG

HGVS:

• NC_000002.12:g.178799566G>A
• NG_011618.3:g.36237C>T
• NM_001256850.1:c.835C>T
• NM_001267550.2:c.835C>TMANE SELECT
• NM_003319.4:c.835C>T
• NM_133378.4:c.835C>T
• NM_133379.5:c.835C>T
• NM_133432.3:c.835C>T
• NM_133437.4:c.835C>T
• NP_001243779.1:p.Arg279Trp
• NP_001254479.2:p.Arg279Trp
• NP_003310.4:p.Arg279Trp
• NP_596869.4:p.Arg279Trp
• NP_596870.2:p.Arg279Trp
• NP_597676.3:p.Arg279Trp
• NP_597681.4:p.Arg279Trp
• LRG_391t1:c.835C>T
• LRG_391:g.36237C>T
• NC_000002.11:g.179664293G>A
• NM_001267550.1:c.835C>T
• Q8WZ42:p.Arg279Trp

This HGVS expression did not pass validation

Protein change:

R279W; ARG279TRP

Links:

UniProtKB: Q8WZ42#VAR_026634; OMIM: 188840.0011; dbSNP: rs138060032

NCBI 1000 Genomes Browser:

rs138060032

Molecular consequence:

• NM_001256850.1:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133379.5:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]