ClinVar

NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)

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: 178527098 (on Assembly GRCh38)
• Chr2: 179391825 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)

HGVS:

• NC_000002.12:g.178527098G>A
• NG_011618.3:g.308705C>T
• NG_051363.1:g.9272G>A
• NM_001256850.1:c.102967C>T
• NM_001267550.2:c.107890C>TMANE SELECT
• NM_003319.4:c.80695C>T
• NM_133378.4:c.100186C>T
• NM_133432.3:c.81070C>T
• NM_133437.4:c.81271C>T
• NP_001243779.1:p.Gln34323Ter
• NP_001254479.2:p.Gln35964Ter
• NP_003310.4:p.Gln26899Ter
• NP_596869.4:p.Gln33396Ter
• NP_597676.3:p.Gln27024Ter
• NP_597681.4:p.Gln27091Ter
• LRG_391:g.308705C>T
• NC_000002.11:g.179391825G>A

This HGVS expression did not pass validation

Nucleotide change:

AJ277892.2:g.293379C>T

Protein change:

Q26899*

Links:

dbSNP: rs281864929

NCBI 1000 Genomes Browser:

rs281864929

Molecular consequence:

• NM_001256850.1:c.102967C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001267550.2:c.107890C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003319.4:c.80695C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133378.4:c.100186C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133432.3:c.81070C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133437.4:c.81271C>T - nonsense - [Sequence Ontology: SO:0001587]