ClinVar

NM_003334.4(UBA1):c.121A>G (p.Met41Val)

Genes:

LOC126863253:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47057593-47058792 [Gene]
UBA1:ubiquitin like modifier activating enzyme 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.3

Genomic location:

• ChrX: 47199051 (on Assembly GRCh38)
• ChrX: 47058450 (on Assembly GRCh37)

Preferred name:

NM_003334.4(UBA1):c.121A>G (p.Met41Val)

Other names:

p.M41V; p.Met41Val

HGVS:

• NC_000023.11:g.47199051A>G
• NG_009161.1:g.13252A>G
• NM_003334.4:c.121A>GMANE SELECT
• NM_153280.3:c.121A>G
• NP_003325.2:p.Met41Val
• NP_695012.1:p.Met41Val
• NC_000023.10:g.47058450A>G
• NM_003334.3:c.121A>G

This HGVS expression did not pass validation

Protein change:

M41V; MET41VAL

Links:

OMIM: 314370.0004; dbSNP: rs1936307795

NCBI 1000 Genomes Browser:

rs1936307795

Molecular consequence:

• NM_003334.4:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_153280.3:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]