NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) AND Retinitis pigmentosa 39
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003449048.3
Allele description [Variation Report for NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)]
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
Condition(s)
-
UDP-glucose glycoprotein:glucosyltransferase precursor [Rattus norvegicus]
UDP-glucose glycoprotein:glucosyltransferase precursor [Rattus norvegicus]gi|7677176|gb|AAF67072.1|AF200359_1Protein
-
unnamed protein product [Fusarium graminearum]
unnamed protein product [Fusarium graminearum]gi|699032943|emb|CEF85276.1|Protein
-
4-alpha-glucanotransferase [Xanthomonas sp. WG16]
4-alpha-glucanotransferase [Xanthomonas sp. WG16]gi|1928150718|gb|QOX03384.1||gnl|PR 6296|IG630_02205Protein
-
K-EST0070789 S21SNU520 Homo sapiens cDNA clone S21SNU520-13-C05 5', mRNA sequenc...
K-EST0070789 S21SNU520 Homo sapiens cDNA clone S21SNU520-13-C05 5', mRNA sequencegi|19139128|gnl|dbEST|11388192|gb|B 96.1|Nucleotide
-
Homo sapiens myotubularin 1, mRNA (cDNA clone MGC:26338 IMAGE:4824189), complete...
Homo sapiens myotubularin 1, mRNA (cDNA clone MGC:26338 IMAGE:4824189), complete cdsgi|21314968|gb|BC030779.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024