NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487746.1
Allele description [Variation Report for NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)]
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MDDGA1)
- Synonyms:
- Hydrocephalus, agyria and retinal dysplasia; Hard +/- E syndrome; Warburg syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009364; MedGen: C4284790; Orphanet: 588; Orphanet: 899; OMIM: 236670
- Name:
- Muscular dystrophy-dystroglycanopathy type B5 (MDDGB5)
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MUSCULAR DYSTROPHY, CONGENITAL, 1C; MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
- Identifiers:
- MONDO: MONDO:0011688; MedGen: C1847759; OMIM: 606612
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2I
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011787; MedGen: C1846672; Orphanet: 34515; OMIM: 607155
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
- Identifiers:
- MONDO: MONDO:0013157; MedGen: C3150413; Orphanet: 588; Orphanet: 899; OMIM: 613153
-
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Rattus norvegicus serine peptidase inhibitor, Kunitz type, 2 (Spint2), transcript variant 2, mRNAgi|40018549|ref|NM_199087.1|Nucleotide
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Homo sapiens metal response element binding transcription factor 2 (MTF2), trans...
Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNAgi|1519246328|ref|NM_007358.4|Nucleotide
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F-box protein 8, isoform CRA_a [Homo sapiens]
F-box protein 8, isoform CRA_a [Homo sapiens]gi|119625147|gb|EAX04742.1||gnl|WGS |hCP49788Protein
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Last Updated: Sep 29, 2024