NM_019032.6(ADAMTSL4):c.2480C>T (p.Pro827Leu) AND Ectopia lentis et pupillae
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003339834.1
Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.2480C>T (p.Pro827Leu)]
NM_019032.6(ADAMTSL4):c.2480C>T (p.Pro827Leu)
Condition(s)
-
Pro-melanin-concentrating hormone [Homo sapiens]
Pro-melanin-concentrating hormone [Homo sapiens]gi|17390095|gb|AAH18048.1|Protein
-
Homo sapiens pro-melanin-concentrating hormone, mRNA (cDNA clone MGC:26374 IMAGE...
Homo sapiens pro-melanin-concentrating hormone, mRNA (cDNA clone MGC:26374 IMAGE:4794545), complete cdsgi|17390094|gb|BC018048.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024