ClinVar

NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)

Genes:

LOC126806429:BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178727218 (on Assembly GRCh38)
• Chr2: 179591945 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)

Other names:

p.M6399K:ATG>AAG

HGVS:

• NC_000002.12:g.178727218A>T
• NG_011618.3:g.108585T>A
• NG_082749.1:g.653A>T
• NM_001256850.1:c.19196T>A
• NM_001267550.2:c.20147T>AMANE SELECT
• NM_003319.4:c.13282+10864T>A
• NM_133378.4:c.16415T>A
• NM_133432.3:c.13657+10864T>A
• NM_133437.4:c.13858+10864T>A
• NP_001243779.1:p.Met6399Lys
• NP_001254479.1:p.Met6716Lys
• NP_001254479.2:p.Met6716Lys
• NP_596869.4:p.Met5472Lys
• LRG_391t1:c.20147T>A
• LRG_391:g.108585T>A
• LRG_391p1:p.Met6716Lys
• NC_000002.11:g.179591945A>T
• NM_001267550.1:c.20147T>A
• NM_001267550.1:c.20147T>A
• NM_133379.3:c.*18367T>A
• c.16415T>A

This HGVS expression did not pass validation

Protein change:

M5472K

Links:

dbSNP: rs28626194

NCBI 1000 Genomes Browser:

rs28626194

Molecular consequence:

• NM_003319.4:c.13282+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.19196T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.20147T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.16415T>A - missense variant - [Sequence Ontology: SO:0001583]