ClinVar

NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val)

Genes:

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: 178604013 (on Assembly GRCh38)
• Chr2: 179468740 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val)

HGVS:

• NC_000002.12:g.178604013C>A
• NG_011618.3:g.231790G>T
• NG_051363.1:g.86187C>A
• NM_001256850.1:c.49751G>T
• NM_001267550.2:c.54674G>TMANE SELECT
• NM_003319.4:c.27479G>T
• NM_133378.4:c.46970G>T
• NM_133432.3:c.27854G>T
• NM_133437.4:c.28055G>T
• NP_001243779.1:p.Gly16584Val
• NP_001254479.2:p.Gly18225Val
• NP_003310.4:p.Gly9160Val
• NP_596869.4:p.Gly15657Val
• NP_597676.3:p.Gly9285Val
• NP_597681.4:p.Gly9352Val
• LRG_391:g.231790G>T
• NC_000002.11:g.179468740C>A
• NM_001267550.2:c.54674G>T

This HGVS expression did not pass validation

Protein change:

G15657V

Links:

dbSNP: rs886038866

NCBI 1000 Genomes Browser:

rs886038866

Molecular consequence:

• NM_001256850.1:c.49751G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.54674G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.27479G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.46970G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.27854G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.28055G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1