ClinVar

NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)

Genes:

LOC126806422:BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 [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: 178576392 (on Assembly GRCh38)
• Chr2: 179441119 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)

Other names:

p.P20679L:CCG>CTG

HGVS:

• NC_000002.12:g.178576392G>A
• NG_011618.3:g.259411C>T
• NG_051363.1:g.58566G>A
• NG_082742.1:g.1015G>A
• NM_001256850.1:c.64817C>T
• NM_001267550.2:c.69740C>TMANE SELECT
• NM_003319.4:c.42545C>T
• NM_133378.4:c.62036C>T
• NM_133432.3:c.42920C>T
• NM_133437.4:c.43121C>T
• NP_001243779.1:p.Pro21606Leu
• NP_001254479.1:p.Pro23247Leu
• NP_001254479.2:p.Pro23247Leu
• NP_003310.4:p.Pro14182Leu
• NP_596869.4:p.Pro20679Leu
• NP_597676.3:p.Pro14307Leu
• NP_597681.4:p.Pro14374Leu
• LRG_391t1:c.69740C>T
• LRG_391:g.259411C>T
• LRG_391p1:p.Pro23247Leu
• NC_000002.11:g.179441119G>A
• NM_001267550.1:c.69740C>T
• NM_133379.3:c.*169193C>T
• c.62036C>T

This HGVS expression did not pass validation

Protein change:

P14182L

Links:

dbSNP: rs115658240

NCBI 1000 Genomes Browser:

rs115658240

Molecular consequence:

• NM_001256850.1:c.64817C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.69740C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.42545C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.62036C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.42920C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.43121C>T - missense variant - [Sequence Ontology: SO:0001583]