ClinVar

NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)

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: 178579969 (on Assembly GRCh38)
• Chr2: 179444696 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)

HGVS:

• NC_000002.12:g.178579969C>T
• NG_011618.3:g.255834G>A
• NG_051363.1:g.62143C>T
• NM_001256850.1:c.62395G>A
• NM_001267550.2:c.67318G>AMANE SELECT
• NM_003319.4:c.40123G>A
• NM_133378.4:c.59614G>A
• NM_133432.3:c.40498G>A
• NM_133437.4:c.40699G>A
• NP_001243779.1:p.Gly20799Ser
• NP_001254479.2:p.Gly22440Ser
• NP_003310.4:p.Gly13375Ser
• NP_596869.4:p.Gly19872Ser
• NP_597676.3:p.Gly13500Ser
• NP_597681.4:p.Gly13567Ser
• LRG_391:g.255834G>A
• NC_000002.11:g.179444696C>T
• NM_001267550.2:c.67318G>A
• NM_003319.4:c.40123G>A

This HGVS expression did not pass validation

Protein change:

G13375S

Links:

dbSNP: rs727503576

NCBI 1000 Genomes Browser:

rs727503576

Molecular consequence:

• NM_001256850.1:c.62395G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.67318G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.40123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.59614G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.40498G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.40699G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1