ClinVar

NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178702634 (on Assembly GRCh38)
• Chr2: 179567361 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter)

HGVS:

• NC_000002.12:g.178702634G>A
• NG_011618.3:g.133169C>T
• NM_001256850.1:c.29302C>T
• NM_001267550.2:c.30253C>TMANE SELECT
• NM_003319.4:c.13282+35448C>T
• NM_133378.4:c.26521C>T
• NM_133432.3:c.13657+35448C>T
• NM_133437.4:c.13858+35448C>T
• NP_001243779.1:p.Gln9768Ter
• NP_001254479.2:p.Gln10085Ter
• NP_596869.4:p.Gln8841Ter
• LRG_391:g.133169C>T
• NC_000002.11:g.179567361G>A

This HGVS expression did not pass validation

Protein change:

Q10085*

Links:

dbSNP: rs1057519237

NCBI 1000 Genomes Browser:

rs1057519237

Molecular consequence:

• NM_003319.4:c.13282+35448C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+35448C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+35448C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.29302C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001267550.2:c.30253C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133378.4:c.26521C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1