ClinVar

NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu)

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: 178529015 (on Assembly GRCh38)
• Chr2: 179393742 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu)

HGVS:

• NC_000002.12:g.178529015G>A
• NG_011618.3:g.306788C>T
• NG_051363.1:g.11189G>A
• NM_001256850.1:c.101813C>T
• NM_001267550.2:c.106736C>TMANE SELECT
• NM_003319.4:c.79541C>T
• NM_133378.4:c.99032C>T
• NM_133432.3:c.79916C>T
• NM_133437.4:c.80117C>T
• NP_001243779.1:p.Ser33938Leu
• NP_001254479.2:p.Ser35579Leu
• NP_003310.4:p.Ser26514Leu
• NP_596869.4:p.Ser33011Leu
• NP_597676.3:p.Ser26639Leu
• NP_597681.4:p.Ser26706Leu
• LRG_391:g.306788C>T
• NC_000002.11:g.179393742G>A

This HGVS expression did not pass validation

Protein change:

S26514L

Links:

dbSNP: rs727504462

NCBI 1000 Genomes Browser:

rs727504462

Molecular consequence:

• NM_001256850.1:c.101813C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.106736C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.79541C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.99032C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.79916C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.80117C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1