NM_020366.4(RPGRIP1):c.678C>T (p.Ile226=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002151867.6
Allele description [Variation Report for NM_020366.4(RPGRIP1):c.678C>T (p.Ile226=)]
NM_020366.4(RPGRIP1):c.678C>T (p.Ile226=)
Condition(s)
-
transmembrane protease serine 7 isoform X5 [Mus musculus]
transmembrane protease serine 7 isoform X5 [Mus musculus]gi|568994886|ref|XP_006521980.1|Protein
-
RecName: Full=Endogenous retrovirus group K member 10 Pol protein; AltName: Full...
RecName: Full=Endogenous retrovirus group K member 10 Pol protein; AltName: Full=HERV-K10 Pol protein; AltName: Full=HERV-K107 Pol protein; AltName: Full=HERV-K_5q33.3 provirus ancestral Pol protein; Includes: RecName: Full=Reverse transcriptase; Short=RT; Includes: RecName: Full=Ribonuclease H; Short=RNase H; Includes: RecName: Full=Integrase; Short=INgi|52001473|sp|P10266.2|POK10_HUMANProtein
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Last Updated: Sep 29, 2024