NM_004525.3(LRP2):c.2489C>T (p.Ser830Leu) AND Donnai-Barrow syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002479751.1
Allele description [Variation Report for NM_004525.3(LRP2):c.2489C>T (p.Ser830Leu)]
NM_004525.3(LRP2):c.2489C>T (p.Ser830Leu)
Condition(s)
-
AGENCOURT_73648971 NICHD_XGC_olfb Xenopus laevis cDNA clone IMAGE:8539104 5', mR...
AGENCOURT_73648971 NICHD_XGC_olfb Xenopus laevis cDNA clone IMAGE:8539104 5', mRNA sequencegi|92060014|gnl|dbEST|37989952|gb|E 90.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024