ClinVar

NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)

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: 178563912 (on Assembly GRCh38)
• Chr2: 179428639 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)

HGVS:

• NC_000002.12:g.178563912A>G
• NG_011618.3:g.271891T>C
• NG_051363.1:g.46086A>G
• NM_001256850.1:c.77297T>C
• NM_001267550.2:c.82220T>CMANE SELECT
• NM_003319.4:c.55025T>C
• NM_133378.4:c.74516T>C
• NM_133432.3:c.55400T>C
• NM_133437.4:c.55601T>C
• NP_001243779.1:p.Ile25766Thr
• NP_001254479.2:p.Ile27407Thr
• NP_003310.4:p.Ile18342Thr
• NP_596869.4:p.Ile24839Thr
• NP_597676.3:p.Ile18467Thr
• NP_597681.4:p.Ile18534Thr
• LRG_391:g.271891T>C
• NC_000002.11:g.179428639A>G
• NM_003319.4:c.55025T>C
• c.74516T>C

This HGVS expression did not pass validation

Protein change:

I18342T

Links:

dbSNP: rs376037252

NCBI 1000 Genomes Browser:

rs376037252

Molecular consequence:

• NM_001256850.1:c.77297T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.82220T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.55025T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.74516T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.55400T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.55601T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3