ClinVar

NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)

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: 178588616 (on Assembly GRCh38)
• Chr2: 179453343 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)

Other names:

p.R19396C:CGT>TGT

HGVS:

• NC_000002.12:g.178588616G>A
• NG_011618.3:g.247187C>T
• NG_051363.1:g.70790G>A
• NM_001256850.1:c.58186C>T
• NM_001267550.2:c.63109C>TMANE SELECT
• NM_003319.4:c.35914C>T
• NM_133378.4:c.55405C>T
• NM_133432.3:c.36289C>T
• NM_133437.4:c.36490C>T
• NP_001243779.1:p.Arg19396Cys
• NP_001254479.2:p.Arg21037Cys
• NP_003310.4:p.Arg11972Cys
• NP_596869.4:p.Arg18469Cys
• NP_597676.3:p.Arg12097Cys
• NP_597681.4:p.Arg12164Cys
• LRG_391:g.247187C>T
• NC_000002.11:g.179453343G>A
• NM_003319.4:c.35914C>T

This HGVS expression did not pass validation

Protein change:

R11972C

Links:

dbSNP: rs191549948

NCBI 1000 Genomes Browser:

rs191549948

Molecular consequence:

• NM_001256850.1:c.58186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.63109C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.35914C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.55405C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.36289C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.36490C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1