NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) AND Glycogen storage disease IXc
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000989595.1
Allele description [Variation Report for NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)]
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)
Condition(s)
-
Assembly links for BioSample (Select 20180929) (1)
Assembly
-
TNFSF10 TNF superfamily member 10 [Homo sapiens]
TNFSF10 TNF superfamily member 10 [Homo sapiens]Gene ID:8743Gene
-
Gene Links for Protein (Select 300193032) (1)
Gene
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Last Updated: Apr 23, 2022