ClinVar

NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q32.3

Genomic location:

• Chr13: 100449297 (on Assembly GRCh38)
• Chr13: 101101551 (on Assembly GRCh37)

Preferred name:

NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)

HGVS:

• NC_000013.11:g.100449297G>A
• NG_008768.1:g.365215G>A
• NM_000282.4:c.1891G>AMANE SELECT
• NM_001127692.3:c.1813G>A
• NM_001178004.2:c.1891G>A
• NM_001352605.2:c.1845+23566G>A
• NM_001352606.2:c.1747G>A
• NM_001352607.2:c.1813G>A
• NM_001352608.2:c.1669G>A
• NM_001352609.2:c.1891G>A
• NM_001352610.2:c.946G>A
• NM_001352611.2:c.900+23566G>A
• NM_001352612.2:c.802G>A
• NP_000273.2:p.Gly631Ser
• NP_001121164.1:p.Gly605Ser
• NP_001171475.1:p.Gly631Ser
• NP_001339535.1:p.Gly583Ser
• NP_001339536.1:p.Gly605Ser
• NP_001339537.1:p.Gly557Ser
• NP_001339538.1:p.Gly631Ser
• NP_001339539.1:p.Gly316Ser
• NP_001339541.1:p.Gly268Ser
• NC_000013.10:g.101101551G>A
• NM_000282.3:c.1891G>A
• NR_148027.2:n.2003G>A
• NR_148028.2:n.1900G>A
• NR_148029.2:n.1822G>A
• NR_148030.2:n.2003G>A
• NR_148031.2:n.1816G>A

This HGVS expression did not pass validation

Protein change:

G268S

Links:

dbSNP: rs796052018

NCBI 1000 Genomes Browser:

rs796052018

Molecular consequence:

• NM_001352605.2:c.1845+23566G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352611.2:c.900+23566G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000282.4:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127692.3:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178004.2:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352606.2:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352607.2:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352608.2:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352609.2:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352610.2:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352612.2:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148027.2:n.2003G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148028.2:n.1900G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148029.2:n.1822G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148030.2:n.2003G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148031.2:n.1816G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]