NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004371982.1
Allele description [Variation Report for NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu)]
NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens, clone IMAGE:5182195, mRNA
Homo sapiens, clone IMAGE:5182195, mRNAgi|20380072|gb|BC027995.1|Nucleotide
-
Homo sapiens RACK-like protein PRKCBP1 (PRKCBP1) mRNA, complete cds
Homo sapiens RACK-like protein PRKCBP1 (PRKCBP1) mRNA, complete cdsgi|7960215|gb|AF233453.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024