NM_016203.4(PRKAG2):c.1044A>C (p.Thr348=) AND Lethal congenital glycogen storage disease of heart
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003042959.2
Allele description [Variation Report for NM_016203.4(PRKAG2):c.1044A>C (p.Thr348=)]
NM_016203.4(PRKAG2):c.1044A>C (p.Thr348=)
Condition(s)
-
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 12MedGen
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024