NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) AND Tay-Sachs disease
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jul 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000412167.6
Allele description [Variation Report for NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)]
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)
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
-
dna ligase [Nannochloropsis gaditana]
dna ligase [Nannochloropsis gaditana]gi|585107050|gb|EWM25299.1||gnl|WGS |Naga_100593g3.5929Protein
-
Glucose-induced degradation 4 [Chlorella sorokiniana]
Glucose-induced degradation 4 [Chlorella sorokiniana]gi|1359809348|gb|PRW45017.1||gnl|WG G|C2E21_6156Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024