NM_000520.6(HEXA):c.1173G>A (p.Val391=) AND Tay-Sachs disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001421522.7
Allele description [Variation Report for NM_000520.6(HEXA):c.1173G>A (p.Val391=)]
NM_000520.6(HEXA):c.1173G>A (p.Val391=)
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
-
translation elongation factor 1-alpha, partial [Fusarium verticillioides]
translation elongation factor 1-alpha, partial [Fusarium verticillioides]gi|2574168669|gb|WMV02745.1|Protein
-
NADH dehydrogenase subunit 5 (mitochondrion) [Gallus gallus bankiva]
NADH dehydrogenase subunit 5 (mitochondrion) [Gallus gallus bankiva]gi|71040232|dbj|BAE16088.1|Protein
-
NADH dehydrogenase subunit 6 (mitochondrion) [Gallus gallus bankiva]
NADH dehydrogenase subunit 6 (mitochondrion) [Gallus gallus bankiva]gi|71040234|dbj|BAE16090.1|Protein
-
J257_mgr02 [Nanger dama]
J257_mgr02 [Nanger dama]Gene ID:79566005Gene
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Last Updated: Sep 29, 2024