ClinVar

NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)

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: 178565274 (on Assembly GRCh38)
• Chr2: 179430001 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)

Other names:

p.T24385M:ACG>ATG

HGVS:

• NC_000002.12:g.178565274G>A
• NG_011618.3:g.270529C>T
• NG_051363.1:g.47448G>A
• NM_001256850.1:c.75935C>T
• NM_001267550.2:c.80858C>TMANE SELECT
• NM_003319.4:c.53663C>T
• NM_133378.4:c.73154C>T
• NM_133432.3:c.54038C>T
• NM_133437.4:c.54239C>T
• NP_001243779.1:p.Thr25312Met
• NP_001254479.2:p.Thr26953Met
• NP_003310.4:p.Thr17888Met
• NP_596869.4:p.Thr24385Met
• NP_597676.3:p.Thr18013Met
• NP_597681.4:p.Thr18080Met
• LRG_391t1:c.80858C>T
• LRG_391:g.270529C>T
• NC_000002.11:g.179430001G>A
• NM_001267550.1:c.80858C>T

This HGVS expression did not pass validation

Protein change:

T17888M

Links:

dbSNP: rs377506142

Molecular consequence:

• NM_001256850.1:c.75935C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.80858C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.53663C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.73154C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.54038C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.54239C>T - missense variant - [Sequence Ontology: SO:0001583]