ClinVar

NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)

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: 178547726 (on Assembly GRCh38)
• Chr2: 179412453 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)

Other names:

p.S29659S:AGC>AGT

HGVS:

• NC_000002.12:g.178547726G>A
• NG_011618.3:g.288077C>T
• NG_051363.1:g.29900G>A
• NM_001256850.1:c.88977C>T
• NM_001267550.2:c.93900C>TMANE SELECT
• NM_003319.4:c.66705C>T
• NM_133378.4:c.86196C>T
• NM_133432.3:c.67080C>T
• NM_133437.4:c.67281C>T
• NP_001243779.1:p.Ser29659=
• NP_001254479.1:p.Ser31300=
• NP_001254479.2:p.Ser31300=
• NP_003310.4:p.Ser22235=
• NP_596869.4:p.Ser28732=
• NP_597676.3:p.Ser22360=
• NP_597681.4:p.Ser22427=
• LRG_391t1:c.93900C>T
• LRG_391:g.288077C>T
• LRG_391p1:p.Ser31300=
• NC_000002.11:g.179412453G>A
• NM_001267550.1:c.93900C>T
• NM_133379.3:c.*197859C>T
• c.86196C>T
• p.Ser28732Ser
• p.Ser31300Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs200173934

NCBI 1000 Genomes Browser:

rs200173934

Molecular consequence:

• NM_001256850.1:c.88977C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.93900C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.66705C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.86196C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.67080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.67281C>T - synonymous variant - [Sequence Ontology: SO:0001819]