NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) AND Retinitis pigmentosa
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001161298.4
Allele description [Variation Report for NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile)]
NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile)
Condition(s)
-
Homo sapiens storkhead box 1 (STOX1), RefSeqGene on chromosome 10
Homo sapiens storkhead box 1 (STOX1), RefSeqGene on chromosome 10gi|1547035556|ref|NG_012975.2|Nucleotide
-
Vibrio sp. F13 strain 10N.222.55.E10, whole genome shotgun sequencing project
Vibrio sp. F13 strain 10N.222.55.E10, whole genome shotgun sequencing projectgi|1633075541|gb|SYVA00000000.1|SYV 0000Nucleotide
-
TGFBR1 mutant replicate 4
TGFBR1 mutant replicate 4biosample
-
Manduca sexta midgut tissue / developmental stage RNA-Seq
Manduca sexta midgut tissue / developmental stage RNA-Seqbiosample
-
Sphingobacteriaceae bacterium isolate Lichen_MAGs_lobaria3, whole genome shotgun...
Sphingobacteriaceae bacterium isolate Lichen_MAGs_lobaria3, whole genome shotgun sequencing projectgi|1849601200|emb|CAHJWG000000000.1 WG010000000Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023