NM_001378454.1(ALMS1):c.8218A>G (p.Ser2740Gly) AND Alstrom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002586864.3
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8218A>G (p.Ser2740Gly)]
NM_001378454.1(ALMS1):c.8218A>G (p.Ser2740Gly)
Condition(s)
-
RecName: Full=Serine/threonine-protein kinase VRK2; AltName: Full=Vaccinia-relat...
RecName: Full=Serine/threonine-protein kinase VRK2; AltName: Full=Vaccinia-related kinase 2gi|90116515|sp|Q86Y07.3|VRK2_HUMANProtein
-
kin of IRRE-like protein 2 isoform X1 [Felis catus]
kin of IRRE-like protein 2 isoform X1 [Felis catus]gi|2131058388|ref|XP_019674254.3|Protein
-
Enterobacter ludwigii strain EN-119 scaffold2, whole genome shotgun sequence
Enterobacter ludwigii strain EN-119 scaffold2, whole genome shotgun sequencegi|748767552|ref|NZ_JTLO01000002.1| WGS:NZ_JTLO01|scaffold2Nucleotide
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Last Updated: Sep 29, 2024