NM_001001557.4(GDF6):c.168C>G (p.Arg56=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002623285.3
Allele description [Variation Report for NM_001001557.4(GDF6):c.168C>G (p.Arg56=)]
NM_001001557.4(GDF6):c.168C>G (p.Arg56=)
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
-
PREDICTED: Piliocolobus tephrosceles putative inactive carbonic anhydrase 5B-lik...
PREDICTED: Piliocolobus tephrosceles putative inactive carbonic anhydrase 5B-like protein (LOC111531695), partial mRNAgi|1788698922|ref|XM_023199041.3|Nucleotide
-
PREDICTED: Rattus norvegicus UTP18 small subunit processome component (Utp18), t...
PREDICTED: Rattus norvegicus UTP18 small subunit processome component (Utp18), transcript variant X2, mRNAgi|2678879102|ref|XM_063269107.1|Nucleotide
-
armadillo-like helical domain-containing protein 3 isoform X9 [Homo sapiens]
armadillo-like helical domain-containing protein 3 isoform X9 [Homo sapiens]gi|2217278585|ref|XP_047281691.1|Protein
-
hypothetical protein FOB45_27575 (plasmid) [Pseudomonas luteola]
hypothetical protein FOB45_27575 (plasmid) [Pseudomonas luteola]gi|1751086635|gnl|PRJNA231221|FOB45 5|gb|QEU31586.1|Protein
-
PsbJ, partial (chloroplast) [Aniseia luxurians]
PsbJ, partial (chloroplast) [Aniseia luxurians]gi|21633682|gb|AAM55707.1|Protein
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Last Updated: Sep 29, 2024