ClinVar

NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)

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: 178532251 (on Assembly GRCh38)
• Chr2: 179396978 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)

HGVS:

• NC_000002.12:g.178532251G>A
• NG_011618.3:g.303552C>T
• NG_051363.1:g.14425G>A
• NM_001256850.1:c.99441C>T
• NM_001267550.2:c.104364C>TMANE SELECT
• NM_003319.4:c.77169C>T
• NM_133378.4:c.96660C>T
• NM_133432.3:c.77544C>T
• NM_133437.4:c.77745C>T
• NP_001243779.1:p.Ser33147=
• NP_001254479.2:p.Ser34788=
• NP_003310.4:p.Ser25723=
• NP_596869.4:p.Ser32220=
• NP_597676.3:p.Ser25848=
• NP_597681.4:p.Ser25915=
• LRG_391:g.303552C>T
• NC_000002.11:g.179396978G>A
• NM_003319.4:c.77169C>T
• c.96660C>T
• p.Ser32220Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs181679744

NCBI 1000 Genomes Browser:

rs181679744

Molecular consequence:

• NM_001256850.1:c.99441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.104364C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.77169C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.96660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.77544C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.77745C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1