NM_000264.5(PTCH1):c.742C>G (p.Leu248Val) AND Gorlin syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003084682.3
Allele description [Variation Report for NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)]
NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)
Condition(s)
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UI-R-Y0-mn-h-02-0-UI.s1 UI-R-Y0 Rattus norvegicus cDNA clone UI-R-Y0-mn-h-02-0-U...
UI-R-Y0-mn-h-02-0-UI.s1 UI-R-Y0 Rattus norvegicus cDNA clone UI-R-Y0-mn-h-02-0-UI 3', mRNA sequencegi|3512340|gnl|dbEST|1870910|gb|AI1 .1|Nucleotide
-
Taxonomy Links for BioSample (Select 10228579) (1)
Taxonomy
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Last Updated: Sep 29, 2024