NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) AND PTCH1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004547466.2
Allele description [Variation Report for NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr)]
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr)
Condition(s)
- Name:
- PTCH1-related disorder
- Synonyms:
- PTCH1-related disorders; PTCH1-related condition
- Identifiers:
-
protein FAM131B isoform c [Mus musculus]
protein FAM131B isoform c [Mus musculus]gi|557440735|ref|NP_001273513.1|Protein
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Last Updated: Oct 13, 2024