NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003766248.1
Allele description
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His)
Condition(s)
- Name:
- Cutis laxa, autosomal dominant 3 (ADCL3)
- Identifiers:
- MONDO: MONDO:0014706; MedGen: C4225268; Orphanet: 90348; OMIM: 616603
- Name:
- Autosomal dominant spastic paraplegia type 9
- Identifiers:
- MONDO: MONDO:0015091; MedGen: C1832669
- Name:
- de Barsy syndrome (ARCL3A)
- Synonyms:
- Corneal clouding cutis laxa mental retardation; Progeroid syndrome of De Barsy; Cutis laxa growth deficiency syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0017569; MedGen: C0268354
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solute carrier family 9 member C1 isoform X10 [Homo sapiens]
solute carrier family 9 member C1 isoform X10 [Homo sapiens]gi|767926490|ref|XP_011511029.1|Protein
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PREDICTED: Homo sapiens solute carrier family 9 member C1 (SLC9C1), transcript v...
PREDICTED: Homo sapiens solute carrier family 9 member C1 (SLC9C1), transcript variant X6, mRNAgi|2462496706|ref|XM_054332389.1|Nucleotide
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solute carrier family 9 member C1 isoform 2 [Homo sapiens]
solute carrier family 9 member C1 isoform 2 [Homo sapiens]gi|1001624468|ref|NP_001307460.1|Protein
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LOC126862812 [Homo sapiens]
LOC126862812 [Homo sapiens]Gene ID:126862812Gene
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Last Updated: Sep 16, 2024