ClinVar

NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)

Genes:

LOC126806424:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 [Gene]
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: 178592420 (on Assembly GRCh38)
• Chr2: 179457147 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)

Other names:

p.P18221L:CCA>CTA

HGVS:

• NC_000002.12:g.178592420G>A
• NG_011618.3:g.243383C>T
• NG_051363.1:g.74594G>A
• NG_082744.1:g.911G>A
• NM_001256850.1:c.54662C>T
• NM_001267550.2:c.59585C>TMANE SELECT
• NM_003319.4:c.32390C>T
• NM_133378.4:c.51881C>T
• NM_133432.3:c.32765C>T
• NM_133437.4:c.32966C>T
• NP_001243779.1:p.Pro18221Leu
• NP_001254479.1:p.Pro19862Leu
• NP_001254479.2:p.Pro19862Leu
• NP_003310.4:p.Pro10797Leu
• NP_596869.4:p.Pro17294Leu
• NP_597676.3:p.Pro10922Leu
• NP_597681.4:p.Pro10989Leu
• LRG_391t1:c.59585C>T
• LRG_391:g.243383C>T
• LRG_391p1:p.Pro19862Leu
• NC_000002.11:g.179457147G>A
• NM_001267550.1:c.59585C>T
• NM_001267550.2:c.59585C>T
• NM_133379.3:c.*153165C>T
• c.51881C>T

This HGVS expression did not pass validation

Protein change:

P10797L

Links:

dbSNP: rs16866406

NCBI 1000 Genomes Browser:

rs16866406

Molecular consequence:

• NM_001256850.1:c.54662C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.59585C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.32390C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.51881C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.32765C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.32966C>T - missense variant - [Sequence Ontology: SO:0001583]