ClinVar

NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)

Genes:

LOC126806427:BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178621310 (on Assembly GRCh38)
• Chr2: 179486037 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)

Other names:

p.K12568N:AAG>AAT

HGVS:

• NC_000002.12:g.178621310C>A
• NG_011618.3:g.214493G>T
• NG_051363.1:g.103484C>A
• NM_001256850.1:c.40485G>T
• NM_001267550.2:c.45408G>TMANE SELECT
• NM_003319.4:c.18213G>T
• NM_133378.4:c.37704G>T
• NM_133432.3:c.18588G>T
• NM_133437.4:c.18789G>T
• NP_001243779.1:p.Lys13495Asn
• NP_001254479.2:p.Lys15136Asn
• NP_003310.4:p.Lys6071Asn
• NP_596869.4:p.Lys12568Asn
• NP_596869.4:p.Lys12568Asn
• NP_597676.3:p.Lys6196Asn
• NP_597681.4:p.Lys6263Asn
• LRG_391t1:c.45408G>T
• LRG_391:g.214493G>T
• NC_000002.11:g.179486037C>A
• NM_001267550.1:c.45408G>T
• NM_133437.3:c.18789G>T
• c.37704G>T

This HGVS expression did not pass validation

Protein change:

K12568N

Links:

dbSNP: rs72677225

NCBI 1000 Genomes Browser:

rs72677225

Molecular consequence:

• NM_001256850.1:c.40485G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.45408G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.18213G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.37704G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.18588G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.18789G>T - missense variant - [Sequence Ontology: SO:0001583]