ClinVar

NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178741391 (on Assembly GRCh38)
• Chr2: 179606118 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys)

Other names:

p.R3631C:CGC>TGC

HGVS:

• NC_000002.12:g.178741391G>A
• NG_011618.3:g.94412C>T
• NM_001256850.1:c.10891C>T
• NM_001267550.2:c.11842C>TMANE SELECT
• NM_003319.4:c.10753C>T
• NM_133378.4:c.10361-3031C>T
• NM_133432.3:c.11128C>T
• NM_133437.4:c.11329C>T
• NP_001243779.1:p.Arg3631Cys
• NP_001254479.2:p.Arg3948Cys
• NP_003310.4:p.Arg3585Cys
• NP_597676.3:p.Arg3710Cys
• NP_597681.4:p.Arg3777Cys
• LRG_391:g.94412C>T
• NC_000002.11:g.179606118G>A
• c.11128C>T

This HGVS expression did not pass validation

Protein change:

R3585C

Links:

dbSNP: rs397517827

NCBI 1000 Genomes Browser:

rs397517827

Molecular consequence:

• NM_133378.4:c.10361-3031C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.10891C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.11842C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.10753C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.11128C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.11329C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1