NM_017837.4(PIGV):c.349A>G (p.Ile117Val) AND Hyperphosphatasia with intellectual disability syndrome 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000286962.6
Allele description [Variation Report for NM_017837.4(PIGV):c.349A>G (p.Ile117Val)]
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)
Condition(s)
-
Neorhizobium petrolearium strain OS53 plasmid unnamed2, complete sequence
Neorhizobium petrolearium strain OS53 plasmid unnamed2, complete sequencegi|2495224745|gb|CP123002.1|Nucleotide
-
Neorhizobium petrolearium strain OS53 plasmid unnamed1, complete sequence
Neorhizobium petrolearium strain OS53 plasmid unnamed1, complete sequencegi|2495223877|gb|CP123001.1|Nucleotide
-
Hcf [Bradysia coprophila]
Hcf [Bradysia coprophila]Gene ID:119075450Gene
-
Hcf [Glossina fuscipes]
Hcf [Glossina fuscipes]Gene ID:119643653Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024