NM_147127.5(EVC2):c.2668G>A (p.Val890Met) AND Ellis-van Creveld syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001146170.5
Allele description [Variation Report for NM_147127.5(EVC2):c.2668G>A (p.Val890Met)]
NM_147127.5(EVC2):c.2668G>A (p.Val890Met)
Condition(s)
-
Rattus norvegicus von Willebrand factor A domain containing 1 (Vwa1), mRNA
Rattus norvegicus von Willebrand factor A domain containing 1 (Vwa1), mRNAgi|62078604|ref|NM_001013938.1|Nucleotide
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Last Updated: Sep 29, 2024