ClinVar

NM_022048.5(CSNK1G1):c.1189G>A (p.Glu397Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 64180373 (on Assembly GRCh38)
• Chr15: 64472572 (on Assembly GRCh37)

Preferred name:

NM_022048.5(CSNK1G1):c.1189G>A (p.Glu397Lys)

HGVS:

• NC_000015.10:g.64180373C>T
• NG_051236.1:g.180887G>A
• NM_001011664.2:c.1189G>A
• NM_001329605.2:c.1300G>A
• NM_001329606.2:c.1189G>A
• NM_001329607.2:c.1189G>A
• NM_022048.5:c.1189G>AMANE SELECT
• NP_001011664.1:p.Glu397Lys
• NP_001316534.1:p.Glu434Lys
• NP_001316535.1:p.Glu397Lys
• NP_001316536.1:p.Glu397Lys
• NP_071331.2:p.Glu397Lys
• NC_000015.9:g.64472572C>T
• NM_022048.3:c.1189G>A

This HGVS expression did not pass validation

Protein change:

E397K

Molecular consequence:

• NM_001011664.2:c.1189G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329605.2:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329606.2:c.1189G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329607.2:c.1189G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022048.5:c.1189G>A - missense variant - [Sequence Ontology: SO:0001583]