NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000524996.12
Allele description [Variation Report for NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)]
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)
Condition(s)
- Name:
- Developmental and epileptic encephalopathy, 1 (DEE1)
- Synonyms:
- INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350
-
bile salt hydrolase, partial [Lactiplantibacillus plantarum]
bile salt hydrolase, partial [Lactiplantibacillus plantarum]gi|1046810820|gb|ANW09918.1|Protein
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See more...Assertion and evidence details
Last Updated: May 12, 2024