NM_031433.4(MFRP):c.976-14A>C AND Isolated microphthalmia 5
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001106995.20
Allele description [Variation Report for NM_031433.4(MFRP):c.976-14A>C]
NM_031433.4(MFRP):c.976-14A>C
Condition(s)
-
MCTP2 protein [Homo sapiens]
MCTP2 protein [Homo sapiens]gi|71296940|gb|AAH41387.1|Protein
-
C1801959 (0)
MedGen
-
PER3 [Gorilla gorilla gorilla]
PER3 [Gorilla gorilla gorilla]Gene ID:101132704Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024