NM_153717.3(EVC):c.107C>G (p.Ala36Gly) AND Ellis-van Creveld syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001830172.2
Allele description [Variation Report for NM_153717.3(EVC):c.107C>G (p.Ala36Gly)]
NM_153717.3(EVC):c.107C>G (p.Ala36Gly)
Condition(s)
-
MAG: Candidatus Uhrbacteria bacterium CG_4_9_14_3_um_filter_36_7 CG_4_9_14_3_um_...
MAG: Candidatus Uhrbacteria bacterium CG_4_9_14_3_um_filter_36_7 CG_4_9_14_3_um_filter_150_scaffold_15817_c, whole genome shotgun sequencegi|1278529009|gb|PFWS01000001.1||gn :PFWS01|CG_4_9_14_3_um_filter_150_scaffold_15817_cNucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024