ClinVar

NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)

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: 178565546 (on Assembly GRCh38)
• Chr2: 179430273 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)

HGVS:

• NC_000002.12:g.178565546G>A
• NG_011618.3:g.270257C>T
• NG_051363.1:g.47720G>A
• NM_001256850.1:c.75663C>T
• NM_001267550.2:c.80586C>TMANE SELECT
• NM_003319.4:c.53391C>T
• NM_133378.4:c.72882C>T
• NM_133432.3:c.53766C>T
• NM_133437.4:c.53967C>T
• NP_001243779.1:p.Ser25221=
• NP_001254479.2:p.Ser26862=
• NP_003310.4:p.Ser17797=
• NP_596869.4:p.Ser24294=
• NP_597676.3:p.Ser17922=
• NP_597681.4:p.Ser17989=
• LRG_391:g.270257C>T
• NC_000002.11:g.179430273G>A
• NM_003319.4:c.53391C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs748292845

NCBI 1000 Genomes Browser:

rs748292845

Molecular consequence:

• NM_001256850.1:c.75663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.80586C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.53391C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.72882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.53766C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.53967C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1