NM_176787.5(PIGN):c.1790del (p.Phe597fs) AND Multiple congenital anomalies-hypotonia-seizures syndrome 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000855531.3
Allele description [Variation Report for NM_176787.5(PIGN):c.1790del (p.Phe597fs)]
NM_176787.5(PIGN):c.1790del (p.Phe597fs)
Condition(s)
-
DNA mismatch repair protein Msh6 [Danio rerio]
DNA mismatch repair protein Msh6 [Danio rerio]gi|33504503|ref|NP_878280.1|Protein
-
Metagenome-assembled genome: SRR7658664_bin.15_CONCOCT_v1.1_MAG
Metagenome-assembled genome: SRR7658664_bin.15_CONCOCT_v1.1_MAGbiosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024