NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) AND Tay-Sachs disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 16, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000670594.1
Allele description [Variation Report for NM_000520.6(HEXA):c.1275A>G (p.Ile425Met)]
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met)
Condition(s)
- Name:
- Tay-Sachs disease (TSD)
- Synonyms:
- GM2 gangliosidosis, type 1; HexA deficiency; Hexosaminidase alpha-subunit deficiency (variant B); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010100; MedGen: C0039373; Orphanet: 845; OMIM: 272800
-
Homo sapiens Rho GTPase activating protein 12, mRNA (cDNA clone MGC:126424 IMAGE...
Homo sapiens Rho GTPase activating protein 12, mRNA (cDNA clone MGC:126424 IMAGE:40035586), complete cdsgi|115527658|gb|BC115362.2|Nucleotide
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Last Updated: Apr 23, 2022