NM_000053.4(ATP7B):c.1050G>A (p.Pro350=) AND Wilson disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001432429.7
Allele description [Variation Report for NM_000053.4(ATP7B):c.1050G>A (p.Pro350=)]
NM_000053.4(ATP7B):c.1050G>A (p.Pro350=)
Condition(s)
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Homo sapiens uncharacterized LL0XNC01-250H12.3 (LL0XNC01-250H12.3), transcript v...
Homo sapiens uncharacterized LL0XNC01-250H12.3 (LL0XNC01-250H12.3), transcript variant 2, long non-coding RNAgi|2579164090|ref|NR_188435.1|Nucleotide
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Synthetic construct clone C1 Phytophthora metabarcode tag sequence
Synthetic construct clone C1 Phytophthora metabarcode tag sequencegi|2701262755|gb|PP407413.1|Nucleotide
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MAMLD1 mastermind like domain containing 1 [Homo sapiens]
MAMLD1 mastermind like domain containing 1 [Homo sapiens]Gene ID:10046Gene
-
Gene Links for GEO Profiles (Select 104958336) (1)
Gene
-
PubChem Compound Links for Gene (Select 574) (8)
PubChem Compound
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024