ClinVar

NM_001267550.2(TTN):c.104414G>T (p.Arg34805Leu)

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: 178532201 (on Assembly GRCh38)
• Chr2: 179396928 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.104414G>T (p.Arg34805Leu)

HGVS:

• NC_000002.12:g.178532201C>A
• NG_011618.3:g.303602G>T
• NG_051363.1:g.14375C>A
• NM_001256850.1:c.99491G>T
• NM_001267550.2:c.104414G>TMANE SELECT
• NM_003319.4:c.77219G>T
• NM_133378.4:c.96710G>T
• NM_133432.3:c.77594G>T
• NM_133437.4:c.77795G>T
• NP_001243779.1:p.Arg33164Leu
• NP_001254479.2:p.Arg34805Leu
• NP_003310.4:p.Arg25740Leu
• NP_596869.4:p.Arg32237Leu
• NP_597676.3:p.Arg25865Leu
• NP_597681.4:p.Arg25932Leu
• LRG_391:g.303602G>T
• NC_000002.11:g.179396928C>A
• NM_003319.4:c.77219G>T
• c.96710G>T

This HGVS expression did not pass validation

Protein change:

R25740L

Links:

dbSNP: rs115150240

NCBI 1000 Genomes Browser:

rs115150240

Molecular consequence:

• NM_001256850.1:c.99491G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.104414G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.77219G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.96710G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.77594G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.77795G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1