ClinVar

NM_001267550.2(TTN):c.94773C>T (p.Gly31591=)

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: 178546655 (on Assembly GRCh38)
• Chr2: 179411382 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.94773C>T (p.Gly31591=)

HGVS:

• NC_000002.12:g.178546655G>A
• NG_011618.3:g.289148C>T
• NG_051363.1:g.28829G>A
• NM_001256850.1:c.89850C>T
• NM_001267550.2:c.94773C>TMANE SELECT
• NM_003319.4:c.67578C>T
• NM_133378.4:c.87069C>T
• NM_133432.3:c.67953C>T
• NM_133437.4:c.68154C>T
• NP_001243779.1:p.Gly29950=
• NP_001254479.2:p.Gly31591=
• NP_003310.4:p.Gly22526=
• NP_596869.4:p.Gly29023=
• NP_597676.3:p.Gly22651=
• NP_597681.4:p.Gly22718=
• LRG_391:g.289148C>T
• NC_000002.11:g.179411382G>A
• NC_000002.11:g.179411382G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs897518524

Molecular consequence:

• NM_001256850.1:c.89850C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.94773C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.67578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.87069C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.67953C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.68154C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2