ClinVar

NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178733828 (on Assembly GRCh38)
• Chr2: 179598555 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)

HGVS:

• NC_000002.12:g.178733828C>A
• NG_011618.3:g.101975G>T
• NM_001256850.1:c.14610G>T
• NM_001267550.2:c.15561G>TMANE SELECT
• NM_003319.4:c.13282+4254G>T
• NM_133378.4:c.11829G>T
• NM_133432.3:c.13657+4254G>T
• NM_133437.4:c.13858+4254G>T
• NP_001243779.1:p.Leu4870=
• NP_001254479.2:p.Leu5187=
• NP_596869.4:p.Leu3943=
• LRG_391:g.101975G>T
• NC_000002.11:g.179598555C>A
• NM_001267550.2:c.15561G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs779159076

NCBI 1000 Genomes Browser:

rs779159076

Molecular consequence:

• NM_003319.4:c.13282+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.14610G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.15561G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.11829G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3