ClinVar

NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)

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: 178574524 (on Assembly GRCh38)
• Chr2: 179439251 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)

Other names:

p.G22229S:GGT>AGT

HGVS:

• NC_000002.12:g.178574524C>T
• NG_011618.3:g.261279G>A
• NG_051363.1:g.56698C>T
• NM_001256850.1:c.66685G>A
• NM_001267550.2:c.71608G>AMANE SELECT
• NM_003319.4:c.44413G>A
• NM_133378.4:c.63904G>A
• NM_133432.3:c.44788G>A
• NM_133437.4:c.44989G>A
• NP_001243779.1:p.Gly22229Ser
• NP_001254479.2:p.Gly23870Ser
• NP_003310.4:p.Gly14805Ser
• NP_596869.4:p.Gly21302Ser
• NP_597676.3:p.Gly14930Ser
• NP_597681.4:p.Gly14997Ser
• LRG_391:g.261279G>A
• NC_000002.11:g.179439251C>T

This HGVS expression did not pass validation

Protein change:

G14805S

Links:

dbSNP: rs727503564

NCBI 1000 Genomes Browser:

rs727503564

Molecular consequence:

• NM_001256850.1:c.66685G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.71608G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.44413G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.63904G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.44788G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.44989G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1