ClinVar

NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)

Genes:

LOC126806425:BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 [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: 178607633 (on Assembly GRCh38)
• Chr2: 179472360 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)

Other names:

p.M16044I:ATG>ATA

HGVS:

• NC_000002.12:g.178607633C>T
• NG_011618.3:g.228170G>A
• NG_051363.1:g.89807C>T
• NM_001256850.1:c.48132G>A
• NM_001267550.2:c.53055G>AMANE SELECT
• NM_003319.4:c.25860G>A
• NM_133378.4:c.45351G>A
• NM_133432.3:c.26235G>A
• NM_133437.4:c.26436G>A
• NP_001243779.1:p.Met16044Ile
• NP_001254479.2:p.Met17685Ile
• NP_003310.4:p.Met8620Ile
• NP_596869.4:p.Met15117Ile
• NP_597676.3:p.Met8745Ile
• NP_597681.4:p.Met8812Ile
• LRG_391:g.228170G>A
• NC_000002.11:g.179472360C>T
• NM_003319.4:c.25860G>A

This HGVS expression did not pass validation

Protein change:

M15117I

Links:

dbSNP: rs200387466

NCBI 1000 Genomes Browser:

rs200387466

Molecular consequence:

• NM_001256850.1:c.48132G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.53055G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.25860G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.45351G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.26235G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.26436G>A - missense variant - [Sequence Ontology: SO:0001583]