ClinVar

NM_005198.5(CHKB):c.217C>T (p.Pro73Ser)

Genes:

CHKB-CPT1B:CHKB-CPT1B readthrough (NMD candidate) [Gene - HGNC]
CHKB:choline kinase beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50582565 (on Assembly GRCh38)
• Chr22: 51020994 (on Assembly GRCh37)

Preferred name:

NM_005198.5(CHKB):c.217C>T (p.Pro73Ser)

HGVS:

• NC_000022.11:g.50582565G>A
• NG_012643.1:g.1103C>T
• NG_029213.1:g.5435C>T
• NM_005198.5:c.217C>TMANE SELECT
• NP_005189.2:p.Pro73Ser
• NP_005189.2:p.Pro73Ser
• LRG_855t1:c.217C>T
• LRG_855:g.5435C>T
• LRG_855p1:p.Pro73Ser
• NC_000022.10:g.51020994G>A
• NM_005198.4:c.217C>T
• NR_027928.2:n.435C>T

This HGVS expression did not pass validation

Protein change:

P73S

Links:

dbSNP: rs864309593

NCBI 1000 Genomes Browser:

rs864309593

Molecular consequence:

• NM_005198.5:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027928.2:n.435C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]