ClinVar

NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178734746 (on Assembly GRCh38)
• Chr2: 179599473 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)

Other names:

p.V4743L:GTC>CTC

HGVS:

• NC_000002.12:g.178734746C>G
• NG_011618.3:g.101057G>C
• NM_001256850.1:c.14227G>C
• NM_001267550.2:c.15178G>CMANE SELECT
• NM_003319.4:c.13282+3336G>C
• NM_133378.4:c.11446G>C
• NM_133378.4:c.11446G>C
• NM_133432.3:c.13657+3336G>C
• NM_133437.4:c.13858+3336G>C
• NP_001243779.1:p.Val4743Leu
• NP_001254479.1:p.Val5060Leu
• NP_001254479.2:p.Val5060Leu
• NP_596869.4:p.Val3816Leu
• LRG_391t1:c.15178G>C
• LRG_391:g.101057G>C
• LRG_391p1:p.Val5060Leu
• NC_000002.11:g.179599473C>G
• NM_001267550.1:c.15178G>C
• NM_133379.3:c.*10839G>C
• c.11446G>C

This HGVS expression did not pass validation

Protein change:

V3816L

Links:

dbSNP: rs72648929

NCBI 1000 Genomes Browser:

rs72648929

Molecular consequence:

• NM_003319.4:c.13282+3336G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+3336G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+3336G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.14227G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.15178G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.11446G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

55