NM_032634.4(PIGO):c.3207G>A (p.Val1069=) AND Hyperphosphatasia with intellectual disability syndrome 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001447628.5
Allele description
NM_032634.4(PIGO):c.3207G>A (p.Val1069=)
Condition(s)
-
20S proteasome beta 6 subunit [Trypanosoma brucei brucei]
20S proteasome beta 6 subunit [Trypanosoma brucei brucei]gi|6224687|gb|AAF05905.1|AF148124_1Protein
-
Chain 1, 20S proteasome
Chain 1, 20S proteasomegi|21465668|pdb|1IRU|1Protein
-
NADH dehydrogenase subunit 3 (mitochondrion) [Acropora aspera]
NADH dehydrogenase subunit 3 (mitochondrion) [Acropora aspera]gi|558603334|ref|YP_008815436.1|Protein
-
Plasmodium knowlesi strain H genome assembly, contig: PKNH_00_130, whole genome ...
Plasmodium knowlesi strain H genome assembly, contig: PKNH_00_130, whole genome shotgun sequencegi|1977591076|ref|NW_024070166.1||g M:GCF_000006355.2|contig130Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024