NM_003111.5(SP3):c.157G>C (p.Asp53His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004672677.1
Allele description [Variation Report for NM_003111.5(SP3):c.157G>C (p.Asp53His)]
NM_003111.5(SP3):c.157G>C (p.Asp53His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Cobitis taurica isolate NRUM3_1 haplotype b S7 ribosomal protein gene, intron 1
Cobitis taurica isolate NRUM3_1 haplotype b S7 ribosomal protein gene, intron 1gi|157399345|gb|EF675690.1|Nucleotide
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Cobitis taurica isolate NRUM3_1 haplotype a S7 ribosomal protein gene, intron 1
Cobitis taurica isolate NRUM3_1 haplotype a S7 ribosomal protein gene, intron 1gi|157399344|gb|EF675689.1|Nucleotide
-
Cobitis taurica isolate CU10_5 haplotype b S7 ribosomal protein gene, intron 1
Cobitis taurica isolate CU10_5 haplotype b S7 ribosomal protein gene, intron 1gi|157399348|gb|EF675693.1|Nucleotide
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RecName: Full=4-diphosphocytidyl-2-C-methyl-D-erythritol kinase; Short=CMK; AltN...
RecName: Full=4-diphosphocytidyl-2-C-methyl-D-erythritol kinase; Short=CMK; AltName: Full=4-(cytidine-5'-diphospho)-2-C-methyl-D-erythritol kinasegi|97053342|sp|Q6AAD6.2|ISPE_CUTAKProtein
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Last Updated: Oct 8, 2024