ClinVar

NM_004071.4(CLK1):c.379C>T (p.Arg127Cys)

Gene:

CLK1:CDC like kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

• Chr2: 200861249 (on Assembly GRCh38)
• Chr2: 201725972 (on Assembly GRCh37)

Preferred name:

NM_004071.4(CLK1):c.379C>T (p.Arg127Cys)

HGVS:

• NC_000002.12:g.200861249G>A
• NM_001162407.1:c.505C>T
• NM_004071.4:c.379C>TMANE SELECT
• NP_001155879.1:p.Arg169Cys
• NP_004062.2:p.Arg127Cys
• NC_000002.11:g.201725972G>A
• NR_027855.2:n.474C>T
• NR_027856.2:n.474C>T

This HGVS expression did not pass validation

Protein change:

R127C

Links:

dbSNP: rs2105741354

NCBI 1000 Genomes Browser:

rs2105741354

Molecular consequence:

• NM_001162407.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004071.4:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027855.2:n.474C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_027856.2:n.474C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]