ClinVar

NM_001370658.1(BTD):c.383G>A (p.Arg128His)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

• Chr3: 15642041 (on Assembly GRCh38)
• Chr3: 15683548 (on Assembly GRCh37)

Preferred name:

NM_001370658.1(BTD):c.383G>A (p.Arg128His)

HGVS:

• NC_000003.12:g.15642041G>A
• NG_008019.2:g.45690G>A
• NM_000060.4:c.443G>A
• NM_001281723.4:c.383G>A
• NM_001281724.3:c.383G>A
• NM_001281725.3:c.383G>A
• NM_001281726.3:c.383G>A
• NM_001323582.2:c.383G>A
• NM_001370658.1:c.383G>AMANE SELECT
• NM_001370752.1:c.383G>A
• NM_001370753.1:c.383G>A
• NM_001407364.1:c.383G>A
• NM_001407365.1:c.383G>A
• NM_001407366.1:c.383G>A
• NM_001407367.1:c.383G>A
• NM_001407368.1:c.383G>A
• NM_001407369.1:c.383G>A
• NM_001407370.1:c.383G>A
• NM_001407371.1:c.383G>A
• NM_001407372.1:c.383G>A
• NM_001407373.1:c.383G>A
• NM_001407374.1:c.383G>A
• NM_001407375.1:c.383G>A
• NM_001407376.1:c.383G>A
• NM_001407377.1:c.383G>A
• NM_001407378.1:c.383G>A
• NM_001407379.1:c.383G>A
• NM_001407380.1:c.383G>A
• NM_001407381.1:c.446G>A
• NM_001407382.1:c.383G>A
• NM_001407383.1:c.383G>A
• NM_001407384.1:c.383G>A
• NM_001407386.1:c.383G>A
• NM_001407388.1:c.383G>A
• NM_001407390.1:c.383G>A
• NM_001407392.1:c.383G>A
• NM_001407394.1:c.383G>A
• NM_001407395.1:c.383G>A
• NM_001407396.1:c.383G>A
• NM_001407397.1:c.383G>A
• NM_001407398.1:c.383G>A
• NM_001407399.1:c.383G>A
• NM_001407400.1:c.383G>A
• NM_001407401.1:c.383G>A
• NP_000051.1:p.Arg148His
• NP_001268652.2:p.Arg128His
• NP_001268652.2:p.Arg128His
• NP_001268653.2:p.Arg128His
• NP_001268654.1:p.Arg128His
• NP_001268654.1:p.Arg128His
• NP_001268655.2:p.Arg128His
• NP_001268655.2:p.Arg128His
• NP_001310511.1:p.Arg128His
• NP_001310511.1:p.Arg128His
• NP_001357587.1:p.Arg128His
• NP_001357681.1:p.Arg128His
• NP_001357682.1:p.Arg128His
• NP_001394293.1:p.Arg128His
• NP_001394294.1:p.Arg128His
• NP_001394295.1:p.Arg128His
• NP_001394296.1:p.Arg128His
• NP_001394297.1:p.Arg128His
• NP_001394298.1:p.Arg128His
• NP_001394299.1:p.Arg128His
• NP_001394300.1:p.Arg128His
• NP_001394301.1:p.Arg128His
• NP_001394302.1:p.Arg128His
• NP_001394303.1:p.Arg128His
• NP_001394304.1:p.Arg128His
• NP_001394305.1:p.Arg128His
• NP_001394306.1:p.Arg128His
• NP_001394307.1:p.Arg128His
• NP_001394308.1:p.Arg128His
• NP_001394309.1:p.Arg128His
• NP_001394310.1:p.Arg149His
• NP_001394311.1:p.Arg128His
• NP_001394312.1:p.Arg128His
• NP_001394313.1:p.Arg128His
• NP_001394315.1:p.Arg128His
• NP_001394317.1:p.Arg128His
• NP_001394319.1:p.Arg128His
• NP_001394321.1:p.Arg128His
• NP_001394323.1:p.Arg128His
• NP_001394324.1:p.Arg128His
• NP_001394325.1:p.Arg128His
• NP_001394326.1:p.Arg128His
• NP_001394327.1:p.Arg128His
• NP_001394328.1:p.Arg128His
• NP_001394329.1:p.Arg128His
• NP_001394330.1:p.Arg128His
• NC_000003.11:g.15683548G>A
• NM_001281723.3:c.383G>A
• NM_001281725.2:c.383G>A
• NM_001281726.2:c.383G>A
• NM_001323582.1:c.383G>A
• NM_001370658.1:c.383G>A

This HGVS expression did not pass validation

Protein change:

R128H

Links:

dbSNP: rs367902696

NCBI 1000 Genomes Browser:

rs367902696

Molecular consequence:

• NM_000060.4:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281723.4:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281724.3:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281725.3:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281726.3:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323582.2:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370658.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370752.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370753.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407364.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407365.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407366.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407367.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407368.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407369.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407370.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407371.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407372.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407373.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407374.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407375.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407376.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407377.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407378.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407379.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407380.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407381.1:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407382.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407383.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407384.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407386.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407388.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407390.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407392.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407394.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407395.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407396.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407397.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407398.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407399.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407400.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407401.1:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]