ClinVar

NM_000282.4(PCCA):c.1136G>T (p.Gly379Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q32.3

Genomic location:

• Chr13: 100301530 (on Assembly GRCh38)
• Chr13: 100953784 (on Assembly GRCh37)

Preferred name:

NM_000282.4(PCCA):c.1136G>T (p.Gly379Val)

HGVS:

• NC_000013.11:g.100301530G>T
• NG_008768.1:g.217448G>T
• NM_000282.4:c.1136G>TMANE SELECT
• NM_001127692.3:c.1058G>T
• NM_001178004.2:c.1136G>T
• NM_001352605.2:c.1136G>T
• NM_001352606.2:c.1066-1394G>T
• NM_001352607.2:c.1058G>T
• NM_001352608.2:c.988-1394G>T
• NM_001352609.2:c.1136G>T
• NM_001352610.2:c.191G>T
• NM_001352611.2:c.191G>T
• NM_001352612.2:c.121-1394G>T
• NP_000273.2:p.Gly379Val
• NP_001121164.1:p.Gly353Val
• NP_001171475.1:p.Gly379Val
• NP_001339534.1:p.Gly379Val
• NP_001339536.1:p.Gly353Val
• NP_001339538.1:p.Gly379Val
• NP_001339539.1:p.Gly64Val
• NP_001339540.1:p.Gly64Val
• NC_000013.10:g.100953784G>T
• NR_148027.2:n.1164G>T
• NR_148028.2:n.1164G>T
• NR_148029.2:n.1086G>T
• NR_148030.2:n.1164G>T
• NR_148031.2:n.1164G>T
• P05165:p.Gly379Val

This HGVS expression did not pass validation

Protein change:

G353V

Links:

UniProtKB: P05165#VAR_009095; dbSNP: rs794727087

NCBI 1000 Genomes Browser:

rs794727087

Molecular consequence:

• NM_001352606.2:c.1066-1394G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352608.2:c.988-1394G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352612.2:c.121-1394G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000282.4:c.1136G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127692.3:c.1058G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178004.2:c.1136G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352605.2:c.1136G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352607.2:c.1058G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352609.2:c.1136G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352610.2:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352611.2:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148027.2:n.1164G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148028.2:n.1164G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148029.2:n.1086G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148030.2:n.1164G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148031.2:n.1164G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1