NM_000414.4(HSD17B4):c.622+5G>A AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002536126.2
Allele description [Variation Report for NM_000414.4(HSD17B4):c.622+5G>A]
NM_000414.4(HSD17B4):c.622+5G>A
Condition(s)
- Name:
- Bifunctional peroxisomal enzyme deficiency (DBIF)
- Synonyms:
- D-bifunctional protein deficiency; DBP deficiency; D-bifunctional enzyme deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009855; MedGen: C0342870; OMIM: 261515
-
Targeted Temperature Management - StatPearls
Targeted Temperature Management - StatPearls
-
LOC114320047 [Camellia sinensis]
LOC114320047 [Camellia sinensis]Gene ID:114320047Gene
-
LOC114263875 [Camellia sinensis]
LOC114263875 [Camellia sinensis]Gene ID:114263875Gene
-
HSD17B12 [Pelecanus crispus]
HSD17B12 [Pelecanus crispus]Gene ID:104030016Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024