NM_020708.5(SLC12A5):c.2788-8C>T AND Developmental and epileptic encephalopathy, 34
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002185689.6
Allele description [Variation Report for NM_020708.5(SLC12A5):c.2788-8C>T]
NM_020708.5(SLC12A5):c.2788-8C>T
Condition(s)
-
Iminoglycinuria
IminoglycinuriaMedGen
-
(124342[MIM]) OR (124342[UID]) (1)
MedGen
-
Leptogenys sp. HN-2002 ultrabithorax (Ubx) gene, partial cds
Leptogenys sp. HN-2002 ultrabithorax (Ubx) gene, partial cdsgi|28261178|gb|AY185291.1|Nucleotide
-
PREDICTED: Bombus terrestris RNA-binding protein Pasilla (LOC100651952), transcr...
PREDICTED: Bombus terrestris RNA-binding protein Pasilla (LOC100651952), transcript variant X3, mRNAgi|2245585473|ref|XM_012308612.3|Nucleotide
-
Tetraponera aethiops ultrabithorax (Ubx) gene, partial cds
Tetraponera aethiops ultrabithorax (Ubx) gene, partial cdsgi|28261190|gb|AY185297.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024