ClinVar

NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178640552 (on Assembly GRCh38)
• Chr2: 179505279 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val)

HGVS:

• NC_000002.12:g.178640552T>A
• NG_011618.3:g.195251A>T
• NM_001256850.1:c.35789A>T
• NM_001267550.2:c.40712A>TMANE SELECT
• NM_003319.4:c.13517A>T
• NM_133378.4:c.33008A>T
• NM_133432.3:c.13892A>T
• NM_133437.4:c.14093A>T
• NP_001243779.1:p.Glu11930Val
• NP_001254479.2:p.Glu13571Val
• NP_003310.4:p.Glu4506Val
• NP_596869.4:p.Glu11003Val
• NP_597676.3:p.Glu4631Val
• NP_597681.4:p.Glu4698Val
• LRG_391:g.195251A>T
• NC_000002.11:g.179505279T>A

This HGVS expression did not pass validation

Protein change:

E11003V

Links:

dbSNP: rs1190002260

NCBI 1000 Genomes Browser:

rs1190002260

Molecular consequence:

• NM_001256850.1:c.35789A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.40712A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.13517A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.33008A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.13892A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.14093A>T - missense variant - [Sequence Ontology: SO:0001583]