ClinVar

NM_144572.2(TBC1D2B):c.1704G>A (p.Leu568=)

Gene:

TBC1D2B:TBC1 domain family member 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.1

Genomic location:

• Chr15: 78016617 (on Assembly GRCh38)
• Chr15: 78308959 (on Assembly GRCh37)

Preferred name:

NM_144572.2(TBC1D2B):c.1704G>A (p.Leu568=)

HGVS:

• NC_000015.10:g.78016617C>T
• NM_001387142.1:c.1704G>A
• NM_001387143.1:c.1701G>A
• NM_001387144.1:c.1704G>A
• NM_001387145.1:c.1368G>A
• NM_001387146.1:c.1368G>A
• NM_001387147.1:c.1368G>A
• NM_001387148.1:c.1368G>A
• NM_001387149.1:c.1254G>A
• NM_015079.6:c.1704G>A
• NM_144572.2:c.1704G>AMANE SELECT
• NP_001374071.1:p.Leu568=
• NP_001374072.1:p.Leu567=
• NP_001374073.1:p.Leu568=
• NP_001374074.1:p.Leu456=
• NP_001374075.1:p.Leu456=
• NP_001374076.1:p.Leu456=
• NP_001374077.1:p.Leu456=
• NP_001374078.1:p.Leu418=
• NP_055894.6:p.Leu568=
• NP_653173.1:p.Leu568=
• NC_000015.9:g.78308959C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001387142.1:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001387143.1:c.1701G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001387144.1:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001387145.1:c.1368G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001387146.1:c.1368G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001387147.1:c.1368G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001387148.1:c.1368G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001387149.1:c.1254G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015079.6:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144572.2:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1