NM_145207.3(AFG2A):c.1572C>T (p.Pro524=) AND Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002725401.2
Allele description [Variation Report for NM_145207.3(AFG2A):c.1572C>T (p.Pro524=)]
NM_145207.3(AFG2A):c.1572C>T (p.Pro524=)
Condition(s)
-
AGENCOURT_10255885 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078873 5', mRN...
AGENCOURT_10255885 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078873 5', mRNA sequencegi|26037060|gnl|dbEST|15601760|gb|C 99.1|Nucleotide
-
Achimenes pedunculata (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024