NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) AND Infantile neuroaxonal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000267667.9
Allele description [Variation Report for NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val)]
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val)
Condition(s)
-
Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA
Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNAgi|4826763|ref|NM_005114.1|Nucleotide
-
Taxonomy Links for Protein Clusters (Select 417198) (174)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024