ClinVar

NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)

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: 178546050 (on Assembly GRCh38)
• Chr2: 179410777 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)

Other names:

Q8WZ42.4:p.Trp30088Leu

HGVS:

• NC_000002.12:g.178546050C>A
• NG_011618.3:g.289753G>T
• NG_051363.1:g.28224C>A
• NM_001256850.1:c.90263G>T
• NM_001267550.2:c.95186G>TMANE SELECT
• NM_003319.4:c.67991G>T
• NM_133378.4:c.87482G>T
• NM_133432.3:c.68366G>T
• NM_133437.4:c.68567G>T
• NP_001243779.1:p.Trp30088Leu
• NP_001254479.2:p.Trp31729Leu
• NP_003310.4:p.Trp22664Leu
• NP_596869.4:p.Trp29161Leu
• NP_597676.3:p.Trp22789Leu
• NP_597681.4:p.Trp22856Leu
• AJ277892.2:g.274427G>T
• LRG_391:g.289753G>T
• NC_000002.11:g.179410777C>A

This HGVS expression did not pass validation

Protein change:

W22664L

Links:

dbSNP: rs786205367

NCBI 1000 Genomes Browser:

rs786205367

Molecular consequence:

• NM_001256850.1:c.90263G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.95186G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.67991G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.87482G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.68366G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.68567G>T - missense variant - [Sequence Ontology: SO:0001583]