NM_000388.4(CASR):c.6A>C (p.Ala2=) AND Familial hypoparathyroidism
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000395613.12
Allele description [Variation Report for NM_000388.4(CASR):c.6A>C (p.Ala2=)]
NM_000388.4(CASR):c.6A>C (p.Ala2=)
Condition(s)
-
Trichothiodystrophy 8, nonphotosensitive
Trichothiodystrophy 8, nonphotosensitiveMedGen
-
C5562057[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024