NM_000157.4(GBA1):c.566C>A (p.Pro189Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004351992.1
Allele description [Variation Report for NM_000157.4(GBA1):c.566C>A (p.Pro189Gln)]
NM_000157.4(GBA1):c.566C>A (p.Pro189Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 3, mRNA
Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 3, mRNAgi|1676318645|ref|NM_032466.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024