ClinVar

NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)

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: 178561747 (on Assembly GRCh38)
• Chr2: 179426474 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)

Other names:

p.V26488F:GTT>TTT

HGVS:

• NC_000002.12:g.178561747C>A
• NG_011618.3:g.274056G>T
• NG_051363.1:g.43921C>A
• NM_001256850.1:c.79462G>T
• NM_001267550.2:c.84385G>TMANE SELECT
• NM_003319.4:c.57190G>T
• NM_133378.4:c.76681G>T
• NM_133432.3:c.57565G>T
• NM_133437.4:c.57766G>T
• NP_001243779.1:p.Val26488Phe
• NP_001254479.2:p.Val28129Phe
• NP_003310.4:p.Val19064Phe
• NP_596869.4:p.Val25561Phe
• NP_597676.3:p.Val19189Phe
• NP_597681.4:p.Val19256Phe
• LRG_391:g.274056G>T
• NC_000002.11:g.179426474C>A

This HGVS expression did not pass validation

Protein change:

V19064F

Links:

dbSNP: rs752974639

NCBI 1000 Genomes Browser:

rs752974639

Molecular consequence:

• NM_001256850.1:c.79462G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.84385G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.57190G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.76681G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.57565G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.57766G>T - missense variant - [Sequence Ontology: SO:0001583]