ClinVar

NM_003337.4(UBE2B):c.23G>C (p.Arg8Thr)

Genes:

CDKL3:cyclin dependent kinase like 3 [Gene - OMIM - HGNC]
UBE2B:ubiquitin conjugating enzyme E2 B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

• Chr5: 134371618 (on Assembly GRCh38)
• Chr5: 133707309 (on Assembly GRCh37)

Preferred name:

NM_003337.4(UBE2B):c.23G>C (p.Arg8Thr)

HGVS:

• NC_000005.10:g.134371618G>C
• NG_042179.2:g.4430C>G
• NG_046936.1:g.5443G>C
• NM_003337.4:c.23G>CMANE SELECT
• NP_003328.1:p.Arg8Thr
• LRG_1006:g.4430C>G
• NC_000005.9:g.133707309G>C
• NM_003337.2:c.23G>C

This HGVS expression did not pass validation

Protein change:

R8T

Links:

dbSNP: rs367537996

NCBI 1000 Genomes Browser:

rs367537996

Molecular consequence:

• NM_003337.4:c.23G>C - missense variant - [Sequence Ontology: SO:0001583]