ClinVar

NM_001363.5(DKC1):c.1147G>A (p.Gly383Ser)

Gene:

DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154773241 (on Assembly GRCh38)
• ChrX: 154001516 (on Assembly GRCh37)

Preferred name:

NM_001363.5(DKC1):c.1147G>A (p.Gly383Ser)

HGVS:

• NC_000023.11:g.154773241G>A
• NG_009780.1:g.15486G>A
• NM_001142463.3:c.1147G>A
• NM_001288747.2:c.1147G>A
• NM_001363.5:c.1147G>AMANE SELECT
• NP_001135935.1:p.Gly383Ser
• NP_001275676.1:p.Gly383Ser
• NP_001354.1:p.Gly383Ser
• LRG_55t1:c.1147G>A
• LRG_55:g.15486G>A
• NC_000023.10:g.154001516G>A
• NM_001363.3:c.1147G>A
• NR_110021.2:n.1726G>A
• NR_110022.2:n.1845G>A
• NR_110023.2:n.1619G>A

This HGVS expression did not pass validation

Protein change:

G383S

Links:

dbSNP: rs483352713

NCBI 1000 Genomes Browser:

rs483352713

Molecular consequence:

• NM_001142463.3:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288747.2:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363.5:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110021.2:n.1726G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110022.2:n.1845G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110023.2:n.1619G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]