NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser) AND Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000735992.4
Allele description [Variation Report for NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser)]
NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser)
Condition(s)
-
PREDICTED: Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant ...
PREDICTED: Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant X2, mRNAgi|1370456269|ref|XM_005269469.3|Nucleotide
-
JGI_CAAK8794.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7659234 3'...
JGI_CAAK8794.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7659234 3', mRNA sequencegi|58491368|gnl|dbEST|27538440|gb|C 34.1|Nucleotide
-
dc40f05.y1 NICHD_XGC_Emb3 Xenopus laevis cDNA clone IMAGE:3399585 5' similar to ...
dc40f05.y1 NICHD_XGC_Emb3 Xenopus laevis cDNA clone IMAGE:3399585 5' similar to gb:gb|M99387.1|XELTANABIN Xenopus laevis tanabin mRNA, complete (XENOPUS), mRNA sequencegi|9826306|gnl|dbEST|5785337|gb|BE5 .1|Nucleotide
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Last Updated: May 19, 2024