NM_000520.6(HEXA):c.70T>A (p.Trp24Arg) AND Tay-Sachs disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001877891.4
Allele description [Variation Report for NM_000520.6(HEXA):c.70T>A (p.Trp24Arg)]
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg)
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
-
endosomal integral membrane protein, putative [Trypanosoma brucei gambiense DAL9...
endosomal integral membrane protein, putative [Trypanosoma brucei gambiense DAL972]gi|261327143|emb|CBH10119.1|Protein
-
Mus musculus ORM1-like 2 (S. cerevisiae), mRNA (cDNA clone MGC:7263 IMAGE:348483...
Mus musculus ORM1-like 2 (S. cerevisiae), mRNA (cDNA clone MGC:7263 IMAGE:3484833), complete cdsgi|12805352|gb|BC002146.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024