ClinVar

NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)

Genes:

LOC126806421:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 [Gene]
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: 178543289 (on Assembly GRCh38)
• Chr2: 179408016 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)

Other names:

p.Y30587Y:TAC>TAT

HGVS:

• NC_000002.12:g.178543289G>A
• NG_011618.3:g.292514C>T
• NG_051363.1:g.25463G>A
• NG_082741.1:g.487G>A
• NM_001256850.1:c.91761C>T
• NM_001267550.2:c.96684C>TMANE SELECT
• NM_003319.4:c.69489C>T
• NM_133378.4:c.88980C>T
• NM_133432.3:c.69864C>T
• NM_133437.4:c.70065C>T
• NP_001243779.1:p.Tyr30587=
• NP_001254479.1:p.Tyr32228=
• NP_001254479.2:p.Tyr32228=
• NP_003310.4:p.Tyr23163=
• NP_596869.4:p.Tyr29660=
• NP_597676.3:p.Tyr23288=
• NP_597681.4:p.Tyr23355=
• LRG_391t1:c.96684C>T
• LRG_391:g.292514C>T
• LRG_391p1:p.Tyr32228=
• NC_000002.11:g.179408016G>A
• NM_001267550.1:c.96684C>T
• NM_003319.4:c.69489C>T
• NM_133379.3:c.*202296C>T
• p.Tyr29660Tyr

This HGVS expression did not pass validation

Links:

dbSNP: rs368423941

NCBI 1000 Genomes Browser:

rs368423941

Molecular consequence:

• NM_001256850.1:c.91761C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.96684C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.69489C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.88980C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.69864C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.70065C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1