NM_001099294.2(SHISAL1):c.473C>T (p.Pro158Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004297738.1
Allele description [Variation Report for NM_001099294.2(SHISAL1):c.473C>T (p.Pro158Leu)]
NM_001099294.2(SHISAL1):c.473C>T (p.Pro158Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Cpgi12434 AND (alive[prop]) (0)
Gene
-
Homo sapiens ATPase plasma membrane Ca2+ transporting 1 (ATP2B1), transcript var...
Homo sapiens ATPase plasma membrane Ca2+ transporting 1 (ATP2B1), transcript variant 30, mRNAgi|2320875594|ref|NM_001413060.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Nov 10, 2024