NM_000158.4(GBE1):c.1902T>C (p.Thr634=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001468231.6
Allele description [Variation Report for NM_000158.4(GBE1):c.1902T>C (p.Thr634=)]
NM_000158.4(GBE1):c.1902T>C (p.Thr634=)
Condition(s)
- Name:
- Glycogen storage disease, type IV (GSD4)
- Synonyms:
- GBE1 DEFICIENCY; GLYCOGENOSIS IV; GSD IV; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009292; MedGen: C0017923; Orphanet: 367; OMIM: 232500
- Name:
- Glycogen storage disease IV, classic hepatic
- Synonyms:
- GSD IV, CLASSIC HEPATIC
- Identifiers:
- MedGen: C1856301
-
SRX5587575 (1)
SRA
-
Macaca mulatta chromosome 1, whole genome shotgun sequence
Macaca mulatta chromosome 1, whole genome shotgun sequencegi|353351477|gnl|WGS:AEHK|chr1|gb|C 53.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024