NM_000520.6(HEXA):c.106C>T (p.Arg36Cys) AND Tay-Sachs disease
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001039808.10
Allele description [Variation Report for NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)]
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
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
-
N-acetylneuraminate epimerase [Yersinia rohdei]
N-acetylneuraminate epimerase [Yersinia rohdei]gi|755392906|gnl|LANL|CH64_268|gb|A 44.1|Protein
-
LOC114564501 [Perca flavescens]
LOC114564501 [Perca flavescens]Gene ID:114564501Gene
-
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024