NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) AND Meckel syndrome, type 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001272928.3
Allele description [Variation Report for NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)]
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
Condition(s)
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Hermania scabra]
cytochrome oxidase subunit 1, partial (mitochondrion) [Hermania scabra]gi|1430075444|gb|AXC47647.1|Protein
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Last Updated: Sep 29, 2024