ClinVar

NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)

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: 178576952 (on Assembly GRCh38)
• Chr2: 179441679 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)

Other names:

p.S21487Y:TCT>TAT

HGVS:

• NC_000002.12:g.178576952G>T
• NG_011618.3:g.258851C>A
• NG_051363.1:g.59126G>T
• NM_001256850.1:c.64460C>A
• NM_001267550.2:c.69383C>AMANE SELECT
• NM_003319.4:c.42188C>A
• NM_133378.4:c.61679C>A
• NM_133432.3:c.42563C>A
• NM_133437.4:c.42764C>A
• NP_001243779.1:p.Ser21487Tyr
• NP_001254479.2:p.Ser23128Tyr
• NP_003310.4:p.Ser14063Tyr
• NP_596869.4:p.Ser20560Tyr
• NP_597676.3:p.Ser14188Tyr
• NP_597681.4:p.Ser14255Tyr
• LRG_391t1:c.69383C>A
• LRG_391:g.258851C>A
• NC_000002.11:g.179441679G>T
• NM_001267550.1:c.69383C>A

This HGVS expression did not pass validation

Protein change:

S14063Y

Links:

dbSNP: rs72646882

NCBI 1000 Genomes Browser:

rs72646882

Molecular consequence:

• NM_001256850.1:c.64460C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.69383C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.42188C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.61679C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.42563C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.42764C>A - missense variant - [Sequence Ontology: SO:0001583]