NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr) AND Autosomal recessive inherited pseudoxanthoma elasticum
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000499297.3
Allele description [Variation Report for NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr)]
NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr)
Condition(s)
-
Synthetic construct Homo sapiens clone IMAGE:100016481, MGC:184303 olfactory rec...
Synthetic construct Homo sapiens clone IMAGE:100016481, MGC:184303 olfactory receptor, family 6, subfamily C, member 3 (OR6C3) mRNA, encodes complete proteingi|157170353|gb|BC153119.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024