NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001522988.5
Allele description
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
Condition(s)
- Name:
- Klippel-Feil syndrome 1, autosomal dominant (KFS1)
- Synonyms:
- CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT
- Identifiers:
- MONDO: MONDO:0007306; MedGen: C1861689; Orphanet: 2345; OMIM: 118100
- Name:
- Isolated microphthalmia 4
- Identifiers:
- MONDO: MONDO:0013130; MedGen: C2751307; Orphanet: 2542; OMIM: 613094
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paraneoplastic antigen-like protein 8A isoform a [Homo sapiens]
paraneoplastic antigen-like protein 8A isoform a [Homo sapiens]gi|39780597|ref|NP_060685.2|Protein
-
Homo sapiens replication protein A3 (RPA3), mRNA
Homo sapiens replication protein A3 (RPA3), mRNAgi|1653960812|ref|NM_002947.5|Nucleotide
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Pasteuria penetrans isolate RES148, whole genome shotgun sequence
Pasteuria penetrans isolate RES148, whole genome shotgun sequencegi|1741006194|ref|NZ_UZAC03000004.1Nucleotide
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Pasteuria penetrans isolate RES148 genome assembly, contig: gnlJHIPPRES148_1, wh...
Pasteuria penetrans isolate RES148 genome assembly, contig: gnlJHIPPRES148_1, whole genome shotgun sequencegi|1701109931|emb|UZAC03000001.1||g S:UZAC03|gnlJHIPPRES148_1Nucleotide
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Pasteuria penetrans isolate RES148, whole genome shotgun sequencing project
Pasteuria penetrans isolate RES148, whole genome shotgun sequencing projectgi|1701109939|emb|UZAC00000000.3|UZ 00000Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024