ClinVar

NM_001267550.2(TTN):c.11881G>A (p.Val3961Met)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178741352 (on Assembly GRCh38)
• Chr2: 179606079 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.11881G>A (p.Val3961Met)

HGVS:

• NC_000002.12:g.178741352C>T
• NG_011618.3:g.94451G>A
• NM_001256850.1:c.10930G>A
• NM_001267550.2:c.11881G>AMANE SELECT
• NM_003319.4:c.10792G>A
• NM_133378.4:c.10361-2992G>A
• NM_133432.3:c.11167G>A
• NM_133437.4:c.11368G>A
• NP_001243779.1:p.Val3644Met
• NP_001254479.2:p.Val3961Met
• NP_003310.4:p.Val3598Met
• NP_597676.3:p.Val3723Met
• NP_597681.4:p.Val3790Met
• LRG_391:g.94451G>A
• NC_000002.11:g.179606079C>T

This HGVS expression did not pass validation

Protein change:

V3598M

Links:

dbSNP: rs1017307763

NCBI 1000 Genomes Browser:

rs1017307763

Molecular consequence:

• NM_133378.4:c.10361-2992G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.10930G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.11881G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.10792G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.11167G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.11368G>A - missense variant - [Sequence Ontology: SO:0001583]