ClinVar

NM_024664.4(PPCS):c.792G>C (p.Gln264His)

Genes:

CCDC30:coiled-coil domain containing 30 [Gene - HGNC]
PPCS:phosphopantothenoylcysteine synthetase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 42459782 (on Assembly GRCh38)
• Chr1: 42925453 (on Assembly GRCh37)

Preferred name:

NM_024664.4(PPCS):c.792G>C (p.Gln264His)

HGVS:

• NC_000001.11:g.42459782G>C
• NM_001077447.3:c.273G>C
• NM_001287506.1:c.273G>C
• NM_001287507.1:c.174G>C
• NM_001287508.2:c.273G>C
• NM_001287509.2:c.273G>C
• NM_001287510.2:c.273G>C
• NM_001287511.2:c.612+2432G>C
• NM_001355226.2:c.-880+2432G>C
• NM_024664.4:c.792G>CMANE SELECT
• NP_001070915.1:p.Gln91His
• NP_001274435.1:p.Gln91His
• NP_001274436.1:p.Gln58His
• NP_001274437.1:p.Gln91His
• NP_001274438.1:p.Gln91His
• NP_001274439.1:p.Gln91His
• NP_078940.2:p.Gln264His
• NC_000001.10:g.42925453G>C
• NM_024664.2:c.792G>C
• NM_024664.3:c.792G>C

This HGVS expression did not pass validation

Protein change:

Q264H

Links:

dbSNP: rs61745591

NCBI 1000 Genomes Browser:

rs61745591

Molecular consequence:

• NM_001287511.2:c.612+2432G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001355226.2:c.-880+2432G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077447.3:c.273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287506.1:c.273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287507.1:c.174G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287508.2:c.273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287509.2:c.273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287510.2:c.273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024664.4:c.792G>C - missense variant - [Sequence Ontology: SO:0001583]