NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) AND Sandhoff disease
- Germline classification:
- Pathogenic/Likely pathogenic (6 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000669552.15
Allele description [Variation Report for NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)]
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
Condition(s)
- Name:
- Sandhoff disease
- Synonyms:
- GM2-GANGLIOSIDOSIS, TYPE II; HEXOSAMINIDASES A AND B DEFICIENCY; Beta-hexosaminidase-beta-subunit deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010006; MedGen: C0036161; Orphanet: 796; OMIM: 268800
-
MULTISPECIES: hypothetical protein [Haloferax]
MULTISPECIES: hypothetical protein [Haloferax]gi|490161111|ref|WP_004059773.1|Protein
-
Fumonisins
FumonisinsA group of MYCOTOXINS found in CORN contaminated with FUSARIUM fungus. They are chains of about 20 carbons with acidic ester, acetylamino and sometimes other substituents. The...<br/>Year introduced: 2003MeSH
-
Carbocyanines
CarbocyaninesCompounds that contain three methine groups. They are frequently used as cationic dyes used for differential staining of biological materials.<br/>Year introduced: 1991(1976)MeSH
-
Octanes
OctanesEight-carbon saturated hydrocarbon group of the methane series. Include isomers and derivatives.<br/>Year introduced: 1978MeSH
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024