ClinVar

NM_022048.5(CSNK1G1):c.368C>G (p.Pro123Arg)

Gene:

CSNK1G1:casein kinase 1 gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 64216638 (on Assembly GRCh38)
• Chr15: 64508837 (on Assembly GRCh37)

Preferred name:

NM_022048.5(CSNK1G1):c.368C>G (p.Pro123Arg)

HGVS:

• NC_000015.10:g.64216638G>C
• NG_051236.1:g.144622C>G
• NM_001329605.2:c.368C>G
• NM_001329606.2:c.368C>G
• NM_001329607.2:c.368C>G
• NM_022048.5:c.368C>GMANE SELECT
• NP_001316534.1:p.Pro123Arg
• NP_001316535.1:p.Pro123Arg
• NP_001316536.1:p.Pro123Arg
• NP_071331.2:p.Pro123Arg
• NC_000015.9:g.64508837G>C

This HGVS expression did not pass validation

Protein change:

P123R

Links:

dbSNP: rs2140268788

NCBI 1000 Genomes Browser:

rs2140268788

Molecular consequence:

• NM_001329605.2:c.368C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329606.2:c.368C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329607.2:c.368C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_022048.5:c.368C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1