ClinVar

NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)

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: 178554627 (on Assembly GRCh38)
• Chr2: 179419354 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)

Other names:

p.R27933C:CGT>TGT

HGVS:

• NC_000002.12:g.178554627G>A
• NG_011618.3:g.281176C>T
• NG_051363.1:g.36801G>A
• NM_001256850.1:c.83797C>T
• NM_001267550.2:c.88720C>TMANE SELECT
• NM_003319.4:c.61525C>T
• NM_133378.4:c.81016C>T
• NM_133432.3:c.61900C>T
• NM_133437.4:c.62101C>T
• NP_001243779.1:p.Arg27933Cys
• NP_001254479.2:p.Arg29574Cys
• NP_003310.4:p.Arg20509Cys
• NP_596869.4:p.Arg27006Cys
• NP_597676.3:p.Arg20634Cys
• NP_597681.4:p.Arg20701Cys
• LRG_391t1:c.88720C>T
• LRG_391:g.281176C>T
• NC_000002.11:g.179419354G>A
• NM_001267550.1:c.88720C>T
• NM_003319.4:c.61525C>T

This HGVS expression did not pass validation

Protein change:

R20509C

Links:

dbSNP: rs200513274

Molecular consequence:

• NM_001256850.1:c.83797C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.88720C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.61525C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.81016C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.61900C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.62101C>T - missense variant - [Sequence Ontology: SO:0001583]