ClinVar

NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154769233 (on Assembly GRCh38)
• ChrX: 153997508 (on Assembly GRCh37)

Preferred name:

NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)

HGVS:

• NC_000023.11:g.154769233A>C
• NG_009780.1:g.11478A>C
• NM_001142463.3:c.838A>C
• NM_001288747.2:c.838A>C
• NM_001363.5:c.838A>CMANE SELECT
• NP_001135935.1:p.Ser280Arg
• NP_001275676.1:p.Ser280Arg
• NP_001354.1:p.Ser280Arg
• LRG_55t1:c.838A>C
• LRG_55:g.11478A>C
• NC_000023.10:g.153997508A>C
• NM_001288747.1:c.838A>C
• NM_001363.3:c.838A>C
• NM_001363.4:c.838A>C
• NM_001363.5:c.838A>C
• NR_110021.2:n.1417A>C
• NR_110022.2:n.1536A>C
• NR_110023.2:n.1310A>C

This HGVS expression did not pass validation

Protein change:

S280R

Links:

dbSNP: rs146700772

NCBI 1000 Genomes Browser:

rs146700772

Molecular consequence:

• NM_001142463.3:c.838A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288747.2:c.838A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363.5:c.838A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_110021.2:n.1417A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110022.2:n.1536A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110023.2:n.1310A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1