ClinVar

NM_001267550.2(TTN):c.851C>T (p.Ser284Leu)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178799550 (on Assembly GRCh38)
• Chr2: 179664277 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.851C>T (p.Ser284Leu)

HGVS:

• NC_000002.12:g.178799550G>A
• NG_011618.3:g.36253C>T
• NM_001256850.1:c.851C>T
• NM_001267550.2:c.851C>TMANE SELECT
• NM_003319.4:c.851C>T
• NM_133378.4:c.851C>T
• NM_133379.5:c.851C>T
• NM_133432.3:c.851C>T
• NM_133437.4:c.851C>T
• NP_001243779.1:p.Ser284Leu
• NP_001254479.2:p.Ser284Leu
• NP_003310.4:p.Ser284Leu
• NP_596869.4:p.Ser284Leu
• NP_596870.2:p.Ser284Leu
• NP_597676.3:p.Ser284Leu
• NP_597681.4:p.Ser284Leu
• LRG_391:g.36253C>T
• NC_000002.11:g.179664277G>A

This HGVS expression did not pass validation

Protein change:

S284L

Links:

dbSNP: rs775566677

NCBI 1000 Genomes Browser:

rs775566677

Molecular consequence:

• NM_001256850.1:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133379.5:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2