NM_001079866.2(BCS1L):c.889+1G>T AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502421.1
Allele description [Variation Report for NM_001079866.2(BCS1L):c.889+1G>T]
NM_001079866.2(BCS1L):c.889+1G>T
Condition(s)
- Name:
- Pili torti-deafness syndrome (BJS)
- Synonyms:
- Bjornstad syndrome; Pili torti and nerve deafness; Pili torti-sensorineural hearing loss; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009872; MedGen: C0266006; Orphanet: 123; OMIM: 262000
- Name:
- GRACILE syndrome (FLNMS)
- Synonyms:
- Finnish lactic acidosis with hepatic hemosiderosis; Fellman syndrome; Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011308; MedGen: C1864002; Orphanet: 53693; OMIM: 603358
-
IGFBP3 insulin like growth factor binding protein 3 [Homo sapiens]
IGFBP3 insulin like growth factor binding protein 3 [Homo sapiens]Gene ID:3486Gene
-
ST6GALNAC2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 [Homo sapie...
ST6GALNAC2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 [Homo sapiens]Gene ID:10610Gene
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024