ClinVar

NM_000745.4(CHRNA5):c.1138A>T (p.Thr380Ser)

Gene:

CHRNA5:cholinergic receptor nicotinic alpha 5 subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.1

Genomic location:

• Chr15: 78590529 (on Assembly GRCh38)
• Chr15: 78882871 (on Assembly GRCh37)

Preferred name:

NM_000745.4(CHRNA5):c.1138A>T (p.Thr380Ser)

HGVS:

• NC_000015.10:g.78590529A>T
• NG_023328.1:g.30010A>T
• NM_000745.4:c.1138A>TMANE SELECT
• NM_001307945.2:c.458+680A>T
• NM_001395171.1:c.1115+23A>T
• NM_001395172.1:c.591+547A>T
• NM_001395173.1:c.713+425A>T
• NM_001395174.1:c.707+431A>T
• NM_001395175.1:c.455+680A>T
• NP_000736.2:p.Thr380Ser
• NC_000015.9:g.78882871A>T
• NM_000745.3:c.1138A>T

This HGVS expression did not pass validation

Protein change:

T380S

Molecular consequence:

• NM_001307945.2:c.458+680A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001395171.1:c.1115+23A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001395172.1:c.591+547A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001395173.1:c.713+425A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001395174.1:c.707+431A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001395175.1:c.455+680A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000745.4:c.1138A>T - missense variant - [Sequence Ontology: SO:0001583]