ClinVar

NM_133379.5(TTN):c.14240A>T (p.Asp4747Val)

Genes:

LOC126806432:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179611985-179613184 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178748160 (on Assembly GRCh38)
• Chr2: 179612887 (on Assembly GRCh37)

Preferred name:

NM_133379.5(TTN):c.14240A>T (p.Asp4747Val)

HGVS:

• NC_000002.12:g.178748160T>A
• NG_011618.3:g.87643A>T
• NM_001256850.1:c.10360+4964A>T
• NM_001267550.2:c.11311+4964A>TMANE SELECT
• NM_003319.4:c.10222+4964A>T
• NM_133378.4:c.10360+4964A>T
• NM_133379.5:c.14240A>T
• NM_133432.3:c.10597+4964A>T
• NM_133437.4:c.10798+4964A>T
• NP_596870.2:p.Asp4747Val
• LRG_391:g.87643A>T
• NC_000002.11:g.179612887T>A
• NM_133379.3:c.14240A>T
• NM_133379.4:c.14240A>T

This HGVS expression did not pass validation

Protein change:

D4747V

Links:

dbSNP: rs149586047

NCBI 1000 Genomes Browser:

rs149586047

Molecular consequence:

• NM_001256850.1:c.10360+4964A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001267550.2:c.11311+4964A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003319.4:c.10222+4964A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133378.4:c.10360+4964A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.10597+4964A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.10798+4964A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133379.5:c.14240A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2