ClinVar

NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178630300 (on Assembly GRCh38)
• Chr2: 179495027 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met)

HGVS:

• NC_000002.12:g.178630300G>A
• NG_011618.3:g.205503C>T
• NM_001256850.1:c.39299C>T
• NM_001267550.2:c.44222C>TMANE SELECT
• NM_003319.4:c.17027C>T
• NM_133378.4:c.36518C>T
• NM_133432.3:c.17402C>T
• NM_133437.4:c.17603C>T
• NP_001243779.1:p.Thr13100Met
• NP_001254479.2:p.Thr14741Met
• NP_003310.4:p.Thr5676Met
• NP_596869.4:p.Thr12173Met
• NP_597676.3:p.Thr5801Met
• NP_597681.4:p.Thr5868Met
• LRG_391:g.205503C>T
• NC_000002.11:g.179495027G>A
• NM_133378.4:c.36518C>T

This HGVS expression did not pass validation

Protein change:

T12173M

Links:

dbSNP: rs778576436

Molecular consequence:

• NM_001256850.1:c.39299C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.44222C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.17027C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.36518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.17402C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.17603C>T - missense variant - [Sequence Ontology: SO:0001583]