NM_052859.4(RFT1):c.155C>A (p.Thr52Lys) AND RFT1-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002008090.6
Allele description [Variation Report for NM_052859.4(RFT1):c.155C>A (p.Thr52Lys)]
NM_052859.4(RFT1):c.155C>A (p.Thr52Lys)
Condition(s)
-
Crossoptilon adenylate cyclase type 5 (ADCY5) gene, partial cds.
Crossoptilon adenylate cyclase type 5 (ADCY5) gene, partial cds.PopSet: 1478591079PopSet
-
Capra hircus growth differentiation factor 9 (GDF9) gene, complete cds.
Capra hircus growth differentiation factor 9 (GDF9) gene, complete cds.PopSet: 2490825583PopSet
-
Capra hircus inhibin alpha chain precursor (INHA) gene, exon 2 and partial cds.
Capra hircus inhibin alpha chain precursor (INHA) gene, exon 2 and partial cds.PopSet: 2476882348PopSet
-
nad2 [Phlebia radiata]
nad2 [Phlebia radiata]Gene ID:14469540Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024