NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) AND Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000652795.12
Allele description [Variation Report for NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)]
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)
Condition(s)
-
hypothetical protein FOA52_008645, partial [Chlamydomonas sp. UWO 241]
hypothetical protein FOA52_008645, partial [Chlamydomonas sp. UWO 241]gi|1955210682|gb|KAG1651606.1||gnl| FSX|cds.scf7180000012469_CUWO241_v1.0-g8685.t1Protein
-
BL02171 AND (alive[prop]) (0)
Gene
-
BL03755 AND (alive[prop]) (0)
Gene
-
Streptomyces sp. 5-6(2022)
Streptomyces sp. 5-6(2022)Streptomyces sp. 5-6(2022) Genome sequencing and assemblyBioProject
-
TARID AND (alive[prop]) (4)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024