NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) AND Congenital contractural arachnodactyly
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003525932.1
Allele description [Variation Report for NM_001999.4(FBN2):c.3483A>G (p.Glu1161=)]
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=)
Condition(s)
- Name:
- Congenital contractural arachnodactyly (CCA)
- Synonyms:
- Beals syndrome; Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007363; MedGen: C0220668; Orphanet: 115; OMIM: 121050
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Homo sapiens sperm acrosome associated 9 (SPACA9), transcript variant 4, mRNA
Homo sapiens sperm acrosome associated 9 (SPACA9), transcript variant 4, mRNAgi|1676440036|ref|NM_001316900.2|Nucleotide
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Taxonomy Links for Nucleotide (Select 696231809) (1)
Taxonomy
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Oenococcus oeni strain AWRIB343 AWRIB343_contig1_group26, whole genome shotgun s...
Oenococcus oeni strain AWRIB343 AWRIB343_contig1_group26, whole genome shotgun sequencegi|1100911023|ref|NZ_MLMQ01000026.1 |WGS:NZ_MLMQ01|AWRIB343_contig1_group26Nucleotide
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Enterococcus sp. T127_10 16S ribosomal RNA gene, partial sequence
Enterococcus sp. T127_10 16S ribosomal RNA gene, partial sequencegi|409968364|gb|JQ739689.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024