ClinVar

NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178741082 (on Assembly GRCh38)
• Chr2: 179605809 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr)

HGVS:

• NC_000002.12:g.178741082C>A
• NG_011618.3:g.94721G>T
• NM_001256850.1:c.11200G>T
• NM_001267550.2:c.12151G>TMANE SELECT
• NM_003319.4:c.11062G>T
• NM_133378.4:c.10361-2722G>T
• NM_133432.3:c.11437G>T
• NM_133437.4:c.11638G>T
• NP_001243779.1:p.Asp3734Tyr
• NP_001254479.1:p.Asp4051Tyr
• NP_001254479.2:p.Asp4051Tyr
• NP_003310.4:p.Asp3688Tyr
• NP_597676.3:p.Asp3813Tyr
• NP_597681.4:p.Asp3880Tyr
• LRG_391t1:c.12151G>T
• LRG_391:g.94721G>T
• LRG_391p1:p.Asp4051Tyr
• NC_000002.11:g.179605809C>A
• NM_001267550.1:c.12151G>T

This HGVS expression did not pass validation

Protein change:

D3688Y

Molecular consequence:

• NM_133378.4:c.10361-2722G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.11200G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.12151G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.11062G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.11437G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.11638G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1