ClinVar

NM_024664.4(PPCS):c.247T>C (p.Leu83=)

Genes:

LOC129930344:ATAC-STARR-seq lymphoblastoid active region 894 [Gene]
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: 42456812 (on Assembly GRCh38)
• Chr1: 42922483 (on Assembly GRCh37)

Preferred name:

NM_024664.4(PPCS):c.247T>C (p.Leu83=)

HGVS:

• NC_000001.11:g.42456812T>C
• NG_163396.1:g.139T>C
• NM_001077447.3:c.-12+184T>C
• NM_001287506.1:c.-12+313T>C
• NM_001287507.1:c.-328+313T>C
• NM_001287508.2:c.-12+88T>C
• NM_001287509.2:c.-12+229T>C
• NM_001287510.2:c.-446T>C
• NM_001287511.2:c.247T>C
• NM_001355226.2:c.-984+313T>C
• NM_024664.4:c.247T>CMANE SELECT
• NP_001274440.1:p.Leu83=
• NP_078940.2:p.Leu83=
• NC_000001.10:g.42922483T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1211739013

NCBI 1000 Genomes Browser:

rs1211739013

Molecular consequence:

• NM_001287510.2:c.-446T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001077447.3:c.-12+184T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287506.1:c.-12+313T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287507.1:c.-328+313T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287508.2:c.-12+88T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287509.2:c.-12+229T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001355226.2:c.-984+313T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287511.2:c.247T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024664.4:c.247T>C - synonymous variant - [Sequence Ontology: SO:0001819]