ClinVar

NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178642297 (on Assembly GRCh38)
• Chr2: 179507024 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)

Other names:

p.V11859F:GTT>TTT

HGVS:

• NC_000002.12:g.178642297C>A
• NG_011618.3:g.193506G>T
• NM_001256850.1:c.35575G>T
• NM_001267550.2:c.40498G>TMANE SELECT
• NM_003319.4:c.13303G>T
• NM_133378.4:c.32794G>T
• NM_133432.3:c.13678G>T
• NM_133437.4:c.13879G>T
• NP_001243779.1:p.Val11859Phe
• NP_001254479.2:p.Val13500Phe
• NP_003310.4:p.Val4435Phe
• NP_596869.4:p.Val10932Phe
• NP_596869.4:p.Val10932Phe
• NP_597676.3:p.Val4560Phe
• NP_597681.4:p.Val4627Phe
• LRG_391t1:c.40498G>T
• LRG_391:g.193506G>T
• NC_000002.11:g.179507024C>A
• NM_001267550.1:c.40498G>T
• c.32794G>T

This HGVS expression did not pass validation

Protein change:

V10932F

Links:

dbSNP: rs201944202

Molecular consequence:

• NM_001256850.1:c.35575G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.40498G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.13303G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.32794G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.13678G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.13879G>T - missense variant - [Sequence Ontology: SO:0001583]