NM_000053.4(ATP7B):c.1788C>G (p.Ser596=) AND Wilson disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003045683.2
Allele description [Variation Report for NM_000053.4(ATP7B):c.1788C>G (p.Ser596=)]
NM_000053.4(ATP7B):c.1788C>G (p.Ser596=)
Condition(s)
-
Homo sapiens protein tyrosine phosphatase receptor type O (PTPRO), transcript va...
Homo sapiens protein tyrosine phosphatase receptor type O (PTPRO), transcript variant 4, mRNAgi|333609220|ref|NM_030668.2|Nucleotide
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LOC130058936 [Homo sapiens]
LOC130058936 [Homo sapiens]Gene ID:130058936Gene
-
LOC129390793 [Homo sapiens]
LOC129390793 [Homo sapiens]Gene ID:129390793Gene
-
LOC130058966 [Homo sapiens]
LOC130058966 [Homo sapiens]Gene ID:130058966Gene
-
LOC104903249 [Beta vulgaris subsp. vulgaris]
LOC104903249 [Beta vulgaris subsp. vulgaris]Gene ID:104903249Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024