NM_000478.6(ALPL):c.212G>A (p.Arg71His) AND Adult hypophosphatasia
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003388008.3
Allele description [Variation Report for NM_000478.6(ALPL):c.212G>A (p.Arg71His)]
NM_000478.6(ALPL):c.212G>A (p.Arg71His)
Condition(s)
-
Rattus norvegicus guanine nucleotide binding protein-like 2 (nucleolar), mRNA (c...
Rattus norvegicus guanine nucleotide binding protein-like 2 (nucleolar), mRNA (cDNA clone MGC:116342 IMAGE:7382617), complete cdsgi|68534383|gb|BC099173.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024