ClinVar

NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)

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: 178560726 (on Assembly GRCh38)
• Chr2: 179425453 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)

Other names:

p.S25901C:TCT>TGT

HGVS:

• NC_000002.12:g.178560726G>C
• NG_011618.3:g.275077C>G
• NG_051363.1:g.42900G>C
• NM_001256850.1:c.80483C>G
• NM_001267550.2:c.85406C>GMANE SELECT
• NM_003319.4:c.58211C>G
• NM_133378.4:c.77702C>G
• NM_133432.3:c.58586C>G
• NM_133437.4:c.58787C>G
• NP_001243779.1:p.Ser26828Cys
• NP_001254479.2:p.Ser28469Cys
• NP_003310.4:p.Ser19404Cys
• NP_596869.4:p.Ser25901Cys
• NP_597676.3:p.Ser19529Cys
• NP_597681.4:p.Ser19596Cys
• LRG_391:g.275077C>G
• NC_000002.11:g.179425453G>C
• NM_003319.4:c.58211C>G
• c.77702C>G

This HGVS expression did not pass validation

Protein change:

S19404C

Links:

dbSNP: rs202040332

NCBI 1000 Genomes Browser:

rs202040332

Molecular consequence:

• NM_001256850.1:c.80483C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.85406C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.58211C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.77702C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.58586C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.58787C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2