NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001366001.7
Allele description [Variation Report for NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser)]
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser)
Condition(s)
- Name:
- Singleton-Merten syndrome 1 (SGMRT1)
- Synonyms:
- Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness; Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
- Identifiers:
- MONDO: MONDO:0024535; MedGen: C4225427; Orphanet: 85191; OMIM: 182250
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Salmonella enterica subsp. enterica serovar Hadar strain BCW_2183 NODE_48_length...
Salmonella enterica subsp. enterica serovar Hadar strain BCW_2183 NODE_48_length_967_cov_4.00857, whole genome shotgun sequencegi|1160441604|gb|MXFQ01000048.1||gn :MXFQ01|NODE_48_length_967_cov_4.00857Nucleotide
-
Erodium absinthoides chloroplast, complete genome
Erodium absinthoides chloroplast, complete genomegi|813559142|ref|NC_026847.1||gnl|N ENOMES|41591Nucleotide
-
Pseudomonas putida CSV86 contig00082, whole genome shotgun sequence
Pseudomonas putida CSV86 contig00082, whole genome shotgun sequencegi|428763162|gb|AMWJ01000074.1||gnl AMWJ01|contig00082Nucleotide
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947383[uid] AND (alive[prop]) (1)
Gene
-
aegA putative oxidoreductase AegA [Escherichia coli str. K-12 substr. MG1655]
aegA putative oxidoreductase AegA [Escherichia coli str. K-12 substr. MG1655]Gene ID:947383Gene
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Last Updated: Mar 5, 2024