NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) AND Retinitis Pigmentosa, Recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000282008.13
Allele description [Variation Report for NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)]
NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)
Condition(s)
- Name:
- Retinitis Pigmentosa, Recessive
- Identifiers:
- MedGen: CN239466
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Taxonomy Links for Protein (Select 2462593171) (1)
Taxonomy
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Chromosome neighbors for GEO Profiles (Select 33492088) (20)
GEO Profiles
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PMC Links for OMIM (Select 600783) (1)
PMC
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Homo sapiens cell-line PI QM protein mRNA, complete cds
Homo sapiens cell-line PI QM protein mRNA, complete cdsgi|86278706|gb|DQ369711.1|Nucleotide
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Taxonomy Links for Nucleotide (Select 1914210388) (1)
Taxonomy
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Last Updated: May 12, 2024