ClinVar

NM_024818.6(UBA5):c.638C>T (p.Ser213Leu)

Genes:

NPHP3-ACAD11:NPHP3-ACAD11 readthrough (NMD candidate) [Gene - HGNC]
UBA5:ubiquitin like modifier activating enzyme 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 132671835 (on Assembly GRCh38)
• Chr3: 132390679 (on Assembly GRCh37)

Preferred name:

NM_024818.6(UBA5):c.638C>T (p.Ser213Leu)

HGVS:

• NC_000003.12:g.132671835C>T
• NG_052968.1:g.22390C>T
• NM_001320210.2:c.470C>T
• NM_001321238.2:c.368C>T
• NM_001321239.1:c.302C>T
• NM_024818.6:c.638C>TMANE SELECT
• NM_198329.4:c.470C>T
• NP_001307139.1:p.Ser157Leu
• NP_001308167.1:p.Ser123Leu
• NP_001308168.1:p.Ser101Leu
• NP_079094.1:p.Ser213Leu
• NP_938143.1:p.Ser157Leu
• NC_000003.11:g.132390679C>T
• NM_024818.3:c.638C>T

This HGVS expression did not pass validation

Protein change:

S101L

Links:

dbSNP: rs376997494

NCBI 1000 Genomes Browser:

rs376997494

Molecular consequence:

• NM_001320210.2:c.470C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321238.2:c.368C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321239.1:c.302C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024818.6:c.638C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198329.4:c.470C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1