NM_000478.6(ALPL):c.928_929del (p.Ser310fs) AND Adult hypophosphatasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003470331.1
Allele description [Variation Report for NM_000478.6(ALPL):c.928_929del (p.Ser310fs)]
NM_000478.6(ALPL):c.928_929del (p.Ser310fs)
Condition(s)
-
Homo sapiens TNF receptor superfamily member 14 (TNFRSF14), transcript variant 1...
Homo sapiens TNF receptor superfamily member 14 (TNFRSF14), transcript variant 1, mRNAgi|1887789817|ref|NM_003820.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024