ClinVar

NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)

Genes:

ATXN7L3-AS1:ATXN7L3 antisense RNA 1 [Gene - HGNC]
UBTF:upstream binding transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 44212851 (on Assembly GRCh38)
• Chr17: 42290219 (on Assembly GRCh37)

Preferred name:

NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)

Other names:

NM_001076683.1:c.628G>A(p.Glu210Lys); NM_001076684.2:c.628G>A(p.Glu210Lys); NM_014233.3:c.628G>A(p.Glu210Lys)

HGVS:

• NC_000017.11:g.44212851C>T
• NG_029864.1:g.13776G>A
• NM_001076683.2:c.628G>A
• NM_001076684.3:c.628G>A
• NM_014233.4:c.628G>AMANE SELECT
• NP_001070151.1:p.Glu210Lys
• NP_001070152.1:p.Glu210Lys
• NP_055048.1:p.Glu210Lys
• NC_000017.10:g.42290219C>T
• NM_014233.2:c.628G>A
• NM_014233.3:c.628G>A
• NM_014233.4(UBTF):c.628G>AMANE SELECT
• NR_045058.2:n.799G>A
• p.Glu210Lys

This HGVS expression did not pass validation

Protein change:

E210K; GLU210LYS

Links:

OMIM: 600673.0001; dbSNP: rs1555582065

NCBI 1000 Genomes Browser:

rs1555582065

Molecular consequence:

• NM_001076683.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001076684.3:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014233.4:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045058.2:n.799G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

• protein gain of function [Variation Ontology: 0040]
• variation affecting protein function [Variation Ontology: 0003]