NM_005120.3(MED12):c.1930C>A (p.Pro644Thr) AND FG syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001209902.6
Allele description
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
Condition(s)
-
PREDICTED: Homo sapiens MAF bZIP transcription factor (MAF), transcript variant ...
PREDICTED: Homo sapiens MAF bZIP transcription factor (MAF), transcript variant X7, mRNAgi|2217305981|ref|XM_017023233.3|Nucleotide
-
SRX873814 (1)
SRA
-
Forward strand read from insert in 5'HPRT insertion targeting and chromosome eng...
Forward strand read from insert in 5'HPRT insertion targeting and chromosome engineering clone MHPN67l07, genomic survey sequencegi|50046556|emb|CR267703.1|Nucleotide
-
RecName: Full=Oligodendrocyte transcription factor 1; Short=Oligo1; AltName: Ful...
RecName: Full=Oligodendrocyte transcription factor 1; Short=Oligo1; AltName: Full=Class B basic helix-loop-helix protein 6; Short=bHLHb6; AltName: Full=Class E basic helix-loop-helix protein 21; Short=bHLHe21gi|22653884|sp|Q8TAK6.2|OLIG1_HUMANProtein
-
nlgn2a [Gasterosteus aculeatus]
nlgn2a [Gasterosteus aculeatus]Gene ID:100462707Gene
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Last Updated: May 27, 2023