ClinVar

NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys)

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: 178531578 (on Assembly GRCh38)
• Chr2: 179396305 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys)

HGVS:

• NC_000002.12:g.178531578G>A
• NG_011618.3:g.304225C>T
• NG_051363.1:g.13752G>A
• NM_001256850.1:c.100114C>T
• NM_001267550.2:c.105037C>TMANE SELECT
• NM_003319.4:c.77842C>T
• NM_133378.4:c.97333C>T
• NM_133432.3:c.78217C>T
• NM_133437.4:c.78418C>T
• NP_001243779.1:p.Arg33372Cys
• NP_001254479.2:p.Arg35013Cys
• NP_003310.4:p.Arg25948Cys
• NP_596869.4:p.Arg32445Cys
• NP_597676.3:p.Arg26073Cys
• NP_597681.4:p.Arg26140Cys
• LRG_391:g.304225C>T
• NC_000002.11:g.179396305G>A
• NM_133378.4:c.97333C>T

This HGVS expression did not pass validation

Protein change:

R25948C

Links:

dbSNP: rs568460311

NCBI 1000 Genomes Browser:

rs568460311

Molecular consequence:

• NM_001256850.1:c.100114C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.105037C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.77842C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.97333C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.78217C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.78418C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1