NM_139285.4(GAS2L2):c.2207C>T (p.Pro736Leu) AND Ciliary dyskinesia, primary, 41
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003130986.3
Allele description [Variation Report for NM_139285.4(GAS2L2):c.2207C>T (p.Pro736Leu)]
NM_139285.4(GAS2L2):c.2207C>T (p.Pro736Leu)
Condition(s)
-
Synthetic construct Homo sapiens MAX gene associated, mRNA (cDNA clone IMAGE:574...
Synthetic construct Homo sapiens MAX gene associated, mRNA (cDNA clone IMAGE:5740090), partial cdsgi|34192191|gb|BC038449.2|Nucleotide
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PREDICTED: ZW10 interactor [Equus przewalskii]
PREDICTED: ZW10 interactor [Equus przewalskii]gi|664732082|ref|XP_008523254.1|Protein
-
RecName: Full=Probable imidazolonepropionase; AltName: Full=Amidohydrolase domai...
RecName: Full=Probable imidazolonepropionase; AltName: Full=Amidohydrolase domain-containing protein 1gi|311033395|sp|Q96NU7.2|HUTI_HUMANProtein
-
histone H3a [Homo sapiens]
histone H3a [Homo sapiens]gi|559902|emb|CAA86403.1|Protein
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Last Updated: Mar 16, 2024