NM_000405.5(GM2A):c.*938G>A AND Tay-Sachs disease, variant AB
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000404489.5
Allele description [Variation Report for NM_000405.5(GM2A):c.*938G>A]
NM_000405.5(GM2A):c.*938G>A
Condition(s)
-
Chain A, GALECTIN-3
Chain A, GALECTIN-3gi|361132499|pdb|3ZSL|AProtein
-
Homo sapiens cDNA FLJ36531 fis, clone TRACH2004336, weakly similar to PUTATIVE K...
Homo sapiens cDNA FLJ36531 fis, clone TRACH2004336, weakly similar to PUTATIVE KINESIN-LIKE PROTEIN C2F12.13gi|21752794|dbj|AK093850.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023