NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) AND Leber congenital amaurosis 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 3, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001005015.2
Allele description [Variation Report for NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs)]
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs)
Condition(s)
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SDR family oxidoreductase [Trichodesmium erythraeum]
SDR family oxidoreductase [Trichodesmium erythraeum]gi|499929356|ref|WP_011610090.1|Protein
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LOC101928214 [Homo sapiens]
LOC101928214 [Homo sapiens]Gene ID:101928214Gene
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Chromosome neighbors for GEO Profiles (Select 44329436) (18)
GEO Profiles
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Salmonella enterica subsp. enterica serovar Muenchen strain 13V1298 NODE_20_leng...
Salmonella enterica subsp. enterica serovar Muenchen strain 13V1298 NODE_20_length_55692_cov_38.7884, whole genome shotgun sequencegi|1693481091|ref|NZ_VFFN01000020.1 |WGS:NZ_VFFN01|NODE_20_length_55692_cov_38.7884Nucleotide
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Erysiphe pulchra isolate Cflorida contig_5702, whole genome shotgun sequence
Erysiphe pulchra isolate Cflorida contig_5702, whole genome shotgun sequencegi|1339924180|gb|PEDP01005700.1||gn :PEDP01|contig_5702Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024