ClinVar

NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)

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: 178548725 (on Assembly GRCh38)
• Chr2: 179413452 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)

Other names:

p.S28399S:AGC>AGT

HGVS:

• NC_000002.12:g.178548725G>A
• NG_011618.3:g.287078C>T
• NG_051363.1:g.30899G>A
• NM_001256850.1:c.87978C>T
• NM_001267550.2:c.92901C>TMANE SELECT
• NM_003319.4:c.65706C>T
• NM_133378.4:c.85197C>T
• NM_133432.3:c.66081C>T
• NM_133437.4:c.66282C>T
• NP_001243779.1:p.Ser29326=
• NP_001254479.1:p.Ser30967=
• NP_001254479.2:p.Ser30967=
• NP_003310.4:p.Ser21902=
• NP_596869.4:p.Ser28399=
• NP_597676.3:p.Ser22027=
• NP_597681.4:p.Ser22094=
• LRG_391t1:c.92901C>T
• LRG_391:g.287078C>T
• LRG_391p1:p.Ser30967=
• NC_000002.11:g.179413452G>A
• NM_001267550.1:c.92901C>T
• NM_133379.3:c.*196860C>T
• c.85197C>T
• p.Ser28399Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs11694623

NCBI 1000 Genomes Browser:

rs11694623

Molecular consequence:

• NM_001256850.1:c.87978C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.92901C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.65706C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.85197C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.66081C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.66282C>T - synonymous variant - [Sequence Ontology: SO:0001819]