ClinVar

NM_001033602.4(MTUS2):c.4039A>T (p.Thr1347Ser)

Gene:

MTUS2:microtubule associated scaffold protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.3

Genomic location:

• Chr13: 29503135 (on Assembly GRCh38)
• Chr13: 30077272 (on Assembly GRCh37)

Preferred name:

NM_001033602.4(MTUS2):c.4039A>T (p.Thr1347Ser)

HGVS:

• NC_000013.11:g.29503135A>T
• NM_001033602.4:c.4039A>TMANE SELECT
• NM_001366650.1:c.4036A>T
• NM_001366651.1:c.3841A>T
• NM_001384605.1:c.4039A>T
• NM_001384606.1:c.4039A>T
• NM_015233.6:c.976A>T
• NP_001028774.3:p.Thr1347Ser
• NP_001353579.1:p.Thr1346Ser
• NP_001353580.1:p.Thr1281Ser
• NP_001371534.1:p.Thr1347Ser
• NP_001371535.1:p.Thr1347Ser
• NP_056048.1:p.Thr326Ser
• NC_000013.10:g.30077272A>T
• NM_001033602.2:c.4069A>T

This HGVS expression did not pass validation

Protein change:

T1281S

Molecular consequence:

• NM_001033602.4:c.4039A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366650.1:c.4036A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366651.1:c.3841A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384605.1:c.4039A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384606.1:c.4039A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015233.6:c.976A>T - missense variant - [Sequence Ontology: SO:0001583]