ClinVar

NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

• Chr3: 15645175 (on Assembly GRCh38)
• Chr3: 15686682 (on Assembly GRCh37)

Preferred name:

NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)

HGVS:

• NC_000003.12:g.15645175T>C
• NG_008019.2:g.48824T>C
• NG_008019.3:g.48825T>C
• NM_000060.4:c.1319T>C
• NM_001281723.4:c.1259T>C
• NM_001281724.3:c.1259T>C
• NM_001281725.3:c.1259T>C
• NM_001323582.2:c.1259T>C
• NM_001370658.1:c.1259T>CMANE SELECT
• NM_001370752.1:c.1015+244T>C
• NM_001370753.1:c.399+3118T>C
• NM_001407364.1:c.1259T>C
• NM_001407365.1:c.1259T>C
• NM_001407366.1:c.1259T>C
• NM_001407367.1:c.1259T>C
• NM_001407368.1:c.1259T>C
• NM_001407369.1:c.1259T>C
• NM_001407370.1:c.1259T>C
• NM_001407371.1:c.1259T>C
• NM_001407372.1:c.1259T>C
• NM_001407373.1:c.1259T>C
• NM_001407374.1:c.1259T>C
• NM_001407375.1:c.1259T>C
• NM_001407376.1:c.1259T>C
• NM_001407377.1:c.1259T>C
• NM_001407378.1:c.1259T>C
• NP_000051.1:p.Leu440Pro
• NP_001268652.2:p.Leu420Pro
• NP_001268652.2:p.Leu420Pro
• NP_001268653.2:p.Leu420Pro
• NP_001268654.1:p.Leu420Pro
• NP_001268654.1:p.Leu420Pro
• NP_001310511.1:p.Leu420Pro
• NP_001310511.1:p.Leu420Pro
• NP_001357587.1:p.Leu420Pro
• NP_001394293.1:p.Leu420Pro
• NP_001394294.1:p.Leu420Pro
• NP_001394295.1:p.Leu420Pro
• NP_001394296.1:p.Leu420Pro
• NP_001394297.1:p.Leu420Pro
• NP_001394298.1:p.Leu420Pro
• NP_001394299.1:p.Leu420Pro
• NP_001394300.1:p.Leu420Pro
• NP_001394301.1:p.Leu420Pro
• NP_001394302.1:p.Leu420Pro
• NP_001394303.1:p.Leu420Pro
• NP_001394304.1:p.Leu420Pro
• NP_001394305.1:p.Leu420Pro
• NP_001394306.1:p.Leu420Pro
• NP_001394307.1:p.Leu420Pro
• NC_000003.11:g.15686682T>C
• NM_001281723.3:c.1259T>C
• NM_001281725.2:c.1259T>C
• NM_001323582.1:c.1259T>C

This HGVS expression did not pass validation

Protein change:

L420P

Links:

dbSNP: rs1575031012

NCBI 1000 Genomes Browser:

rs1575031012

Molecular consequence:

• NM_001370752.1:c.1015+244T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370753.1:c.399+3118T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000060.4:c.1319T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281723.4:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281724.3:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281725.3:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323582.2:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370658.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407364.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407365.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407366.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407367.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407368.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407369.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407370.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407371.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407372.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407373.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407374.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407375.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407376.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407377.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407378.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3