ClinVar

NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)

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: 178542755 (on Assembly GRCh38)
• Chr2: 179407482 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)

Other names:

p.R30726C:CGT>TGT

HGVS:

• NC_000002.12:g.178542755G>A
• NG_011618.3:g.293048C>T
• NG_051363.1:g.24929G>A
• NM_001256850.1:c.92176C>T
• NM_001267550.2:c.97099C>TMANE SELECT
• NM_003319.4:c.69904C>T
• NM_133378.4:c.89395C>T
• NM_133432.3:c.70279C>T
• NM_133437.4:c.70480C>T
• NP_001243779.1:p.Arg30726Cys
• NP_001254479.2:p.Arg32367Cys
• NP_003310.4:p.Arg23302Cys
• NP_596869.4:p.Arg29799Cys
• NP_597676.3:p.Arg23427Cys
• NP_597681.4:p.Arg23494Cys
• LRG_391:g.293048C>T
• NC_000002.11:g.179407482G>A
• c.89395C>T

This HGVS expression did not pass validation

Protein change:

R23302C

Links:

dbSNP: rs202064385

NCBI 1000 Genomes Browser:

rs202064385

Molecular consequence:

• NM_001256850.1:c.92176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.97099C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.69904C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.89395C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.70279C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.70480C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

8