ClinVar

NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)

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: 178528894 (on Assembly GRCh38)
• Chr2: 179393621 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)

Other names:

p.N33978N:AAC>AAT

HGVS:

• NC_000002.12:g.178528894G>A
• NG_011618.3:g.306909C>T
• NG_051363.1:g.11068G>A
• NM_001256850.1:c.101934C>T
• NM_001267550.2:c.106857C>TMANE SELECT
• NM_003319.4:c.79662C>T
• NM_133378.4:c.99153C>T
• NM_133432.3:c.80037C>T
• NM_133437.4:c.80238C>T
• NP_001243779.1:p.Asn33978=
• NP_001254479.1:p.Asn35619=
• NP_001254479.2:p.Asn35619=
• NP_003310.4:p.Asn26554=
• NP_596869.4:p.Asn33051=
• NP_597676.3:p.Asn26679=
• NP_597681.4:p.Asn26746=
• LRG_391t1:c.106857C>T
• LRG_391:g.306909C>T
• LRG_391p1:p.Asn35619=
• NC_000002.11:g.179393621G>A
• NM_001267550.1:c.106857C>T
• NM_133379.3:c.*216691C>T
• NP_596869.4:p.(=)
• c.99153C>T
• p.Asn33051Asn

This HGVS expression did not pass validation

Links:

dbSNP: rs116604145

Molecular consequence:

• NM_001256850.1:c.101934C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.106857C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.79662C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.99153C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.80037C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.80238C>T - synonymous variant - [Sequence Ontology: SO:0001819]