NM_004946.3(DOCK2):c.215A>T (p.Glu72Val) AND DOCK2 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001306879.7
Allele description [Variation Report for NM_004946.3(DOCK2):c.215A>T (p.Glu72Val)]
NM_004946.3(DOCK2):c.215A>T (p.Glu72Val)
Condition(s)
-
Homo sapiens cDNA FLJ11376 fis, clone HEMBA1000428
Homo sapiens cDNA FLJ11376 fis, clone HEMBA1000428gi|10432623|dbj|AK021438.1|Nucleotide
-
Chain A, Nonstructural polyprotein
Chain A, Nonstructural polyproteingi|347948777|pdb|3TRK|AProtein
-
Donson DNA replication fork stabilization factor DONSON [Rattus norvegicus]
Donson DNA replication fork stabilization factor DONSON [Rattus norvegicus]Gene ID:288257Gene
-
Gpn2 GPN-loop GTPase 2 [Rattus norvegicus]
Gpn2 GPN-loop GTPase 2 [Rattus norvegicus]Gene ID:362614Gene
-
Crybg2 crystallin beta-gamma domain containing 2 [Rattus norvegicus]
Crybg2 crystallin beta-gamma domain containing 2 [Rattus norvegicus]Gene ID:298543Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024