ClinVar

NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu)

Gene:

PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q32.3

Genomic location:

• Chr13: 100368573 (on Assembly GRCh38)
• Chr13: 101020827 (on Assembly GRCh37)

Preferred name:

NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu)

HGVS:

• NC_000013.11:g.100368573C>T
• NG_008768.1:g.284491C>T
• NM_000282.4:c.1745C>TMANE SELECT
• NM_001127692.3:c.1667C>T
• NM_001178004.2:c.1745C>T
• NM_001352605.2:c.1745C>T
• NM_001352606.2:c.1601C>T
• NM_001352607.2:c.1667C>T
• NM_001352608.2:c.1523C>T
• NM_001352609.2:c.1745C>T
• NM_001352610.2:c.800C>T
• NM_001352611.2:c.800C>T
• NM_001352612.2:c.656C>T
• NP_000273.2:p.Ser582Leu
• NP_001121164.1:p.Ser556Leu
• NP_001171475.1:p.Ser582Leu
• NP_001339534.1:p.Ser582Leu
• NP_001339535.1:p.Ser534Leu
• NP_001339536.1:p.Ser556Leu
• NP_001339537.1:p.Ser508Leu
• NP_001339538.1:p.Ser582Leu
• NP_001339539.1:p.Ser267Leu
• NP_001339540.1:p.Ser267Leu
• NP_001339541.1:p.Ser219Leu
• NC_000013.10:g.101020827C>T
• NM_000282.3:c.1745C>T
• NR_148027.2:n.1857C>T
• NR_148030.2:n.1857C>T

This HGVS expression did not pass validation

Protein change:

S219L

Links:

dbSNP: rs16957356

NCBI 1000 Genomes Browser:

rs16957356

Molecular consequence:

• NM_000282.4:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127692.3:c.1667C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178004.2:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352605.2:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352606.2:c.1601C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352607.2:c.1667C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352608.2:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352609.2:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352610.2:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352611.2:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352612.2:c.656C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148027.2:n.1857C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148030.2:n.1857C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]