NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) AND Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001563933.2
Allele description [Variation Report for NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)]
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 (MDDGB4)
- Synonyms:
- MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4
- Identifiers:
- MONDO: MONDO:0013156; MedGen: C2751052; OMIM: 613152
Assertion and evidence details
Last Updated: Oct 8, 2024