NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) AND Cutis laxa with osteodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000338336.5
Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)]
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)
Condition(s)
- Name:
- Cutis laxa with osteodystrophy (ARCL2A)
- Synonyms:
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; CUTIS LAXA WITH BONE DYSTROPHY; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018163; MedGen: C0268355; OMIM: 219200
-
Mycobilimbia carneoalbida voucher O-L-174282 internal transcribed spacer 1, part...
Mycobilimbia carneoalbida voucher O-L-174282 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|1733398206|gnl|uoguelph|OLICH112 ITS|gb|MK812691.1|Nucleotide
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unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]gi|74152916|dbj|BAE34472.1|Protein
-
Common Comorbidities with Substance Use Disorders Research Report
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Last Updated: May 7, 2024