ClinVar

NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

• Chr3: 15645303 (on Assembly GRCh38)
• Chr3: 15686810 (on Assembly GRCh37)

Preferred name:

NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)

HGVS:

• NC_000003.12:g.15645303G>T
• NG_008019.2:g.48952G>T
• NG_008019.3:g.48953G>T
• NM_000060.4:c.1447G>T
• NM_001281723.4:c.1387G>T
• NM_001281724.3:c.1387G>T
• NM_001281725.3:c.1387G>T
• NM_001281726.2:c.*3165G>T
• NM_001323582.2:c.1387G>T
• NM_001370658.1:c.1387G>TMANE SELECT
• NM_001370752.1:c.1015+372G>T
• NM_001370753.1:c.399+3246G>T
• NM_001407364.1:c.1387G>T
• NM_001407365.1:c.1387G>T
• NM_001407366.1:c.1387G>T
• NM_001407367.1:c.1387G>T
• NM_001407368.1:c.1387G>T
• NM_001407369.1:c.1387G>T
• NM_001407370.1:c.1387G>T
• NM_001407371.1:c.1387G>T
• NM_001407372.1:c.1387G>T
• NM_001407373.1:c.1387G>T
• NM_001407374.1:c.1387G>T
• NM_001407375.1:c.1387G>T
• NM_001407376.1:c.1387G>T
• NM_001407377.1:c.1387G>T
• NM_001407378.1:c.1387G>T
• NM_001407379.1:c.1015+372G>T
• NM_001407380.1:c.399+3246G>T
• NM_001407398.1:c.399+3246G>T
• NM_001407399.1:c.399+3246G>T
• NM_001407400.1:c.399+3246G>T
• NM_001407401.1:c.399+3246G>T
• NP_000051.1:p.Glu483Ter
• NP_001268652.2:p.Glu463Ter
• NP_001268653.2:p.Glu463Ter
• NP_001268654.1:p.Glu463Ter
• NP_001310511.1:p.Glu463Ter
• NP_001357587.1:p.Glu463Ter
• NP_001394293.1:p.Glu463Ter
• NP_001394294.1:p.Glu463Ter
• NP_001394295.1:p.Glu463Ter
• NP_001394296.1:p.Glu463Ter
• NP_001394297.1:p.Glu463Ter
• NP_001394298.1:p.Glu463Ter
• NP_001394299.1:p.Glu463Ter
• NP_001394300.1:p.Glu463Ter
• NP_001394301.1:p.Glu463Ter
• NP_001394302.1:p.Glu463Ter
• NP_001394303.1:p.Glu463Ter
• NP_001394304.1:p.Glu463Ter
• NP_001394305.1:p.Glu463Ter
• NP_001394306.1:p.Glu463Ter
• NP_001394307.1:p.Glu463Ter
• NC_000003.11:g.15686810G>T
• NM_000060.3:c.1447G>T
• NM_001281724.1:c.1453G>T
• p.Glu485*

This HGVS expression did not pass validation

Protein change:

E463*

Links:

dbSNP: rs1559600871

NCBI 1000 Genomes Browser:

rs1559600871

Molecular consequence:

• NM_001370752.1:c.1015+372G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370753.1:c.399+3246G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407379.1:c.1015+372G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407380.1:c.399+3246G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407398.1:c.399+3246G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407399.1:c.399+3246G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407400.1:c.399+3246G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407401.1:c.399+3246G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000060.4:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281723.4:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281724.3:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281725.3:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001323582.2:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001370658.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407364.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407365.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407366.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407367.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407368.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407369.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407370.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407371.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407372.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407373.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407374.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407375.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407376.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407377.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407378.1:c.1387G>T - nonsense - [Sequence Ontology: SO:0001587]