ClinVar

NM_006283.3(TACC1):c.2276G>T (p.Ser759Ile)

Gene:

TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.22

Genomic location:

• Chr8: 38846746 (on Assembly GRCh38)
• Chr8: 38704264 (on Assembly GRCh37)

Preferred name:

NM_006283.3(TACC1):c.2276G>T (p.Ser759Ile)

HGVS:

• NC_000008.11:g.38846746G>T
• NM_001122824.2:c.1046G>T
• NM_001146216.3:c.1691G>T
• NM_001330521.2:c.1604G>T
• NM_001352778.2:c.2324G>T
• NM_001352779.2:c.2312G>T
• NM_001352780.2:c.2237G>T
• NM_001352781.2:c.2225G>T
• NM_001352782.2:c.2192G>T
• NM_001352783.2:c.2189G>T
• NM_001352784.2:c.2105G>T
• NM_001352785.2:c.2081G>T
• NM_001352786.2:c.2054G>T
• NM_001352787.2:c.2168G>T
• NM_001352788.2:c.1727G>T
• NM_001352789.2:c.1691G>T
• NM_001352790.2:c.1691G>T
• NM_001352791.1:c.1691G>T
• NM_001352792.2:c.1688G>T
• NM_001352793.2:c.1688G>T
• NM_001352794.2:c.1688G>T
• NM_001352795.2:c.1604G>T
• NM_001352796.2:c.1604G>T
• NM_001352797.2:c.1604G>T
• NM_001352798.1:c.1604G>T
• NM_001352799.2:c.1601G>T
• NM_001352801.2:c.995G>T
• NM_001352803.2:c.959G>T
• NM_001352804.2:c.875G>T
• NM_006283.3:c.2276G>TMANE SELECT
• NP_001116296.1:p.Ser349Ile
• NP_001139688.1:p.Ser564Ile
• NP_001317450.1:p.Ser535Ile
• NP_001339707.1:p.Ser775Ile
• NP_001339708.1:p.Ser771Ile
• NP_001339709.1:p.Ser746Ile
• NP_001339710.1:p.Ser742Ile
• NP_001339711.1:p.Ser731Ile
• NP_001339712.1:p.Ser730Ile
• NP_001339713.1:p.Ser702Ile
• NP_001339714.1:p.Ser694Ile
• NP_001339715.1:p.Ser685Ile
• NP_001339716.1:p.Ser723Ile
• NP_001339717.1:p.Ser576Ile
• NP_001339718.1:p.Ser564Ile
• NP_001339719.1:p.Ser564Ile
• NP_001339720.1:p.Ser564Ile
• NP_001339721.1:p.Ser563Ile
• NP_001339722.1:p.Ser563Ile
• NP_001339723.1:p.Ser563Ile
• NP_001339724.1:p.Ser535Ile
• NP_001339725.1:p.Ser535Ile
• NP_001339726.1:p.Ser535Ile
• NP_001339727.1:p.Ser535Ile
• NP_001339728.1:p.Ser534Ile
• NP_001339730.1:p.Ser332Ile
• NP_001339732.1:p.Ser320Ile
• NP_001339733.1:p.Ser292Ile
• NP_006274.2:p.Ser759Ile
• NC_000008.10:g.38704264G>T
• NM_006283.2:c.2276G>T
• NR_148049.2:n.888G>T
• NR_148051.2:n.975G>T

This HGVS expression did not pass validation

Protein change:

S292I

Molecular consequence:

• NM_001122824.2:c.1046G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146216.3:c.1691G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330521.2:c.1604G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352778.2:c.2324G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352779.2:c.2312G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352780.2:c.2237G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352781.2:c.2225G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352782.2:c.2192G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352783.2:c.2189G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352784.2:c.2105G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352785.2:c.2081G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352786.2:c.2054G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352787.2:c.2168G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352788.2:c.1727G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352789.2:c.1691G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352790.2:c.1691G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352791.1:c.1691G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352792.2:c.1688G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352793.2:c.1688G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352794.2:c.1688G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352795.2:c.1604G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352796.2:c.1604G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352797.2:c.1604G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352798.1:c.1604G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352799.2:c.1601G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352801.2:c.995G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352803.2:c.959G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352804.2:c.875G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006283.3:c.2276G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148049.2:n.888G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148051.2:n.975G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]