NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) AND Shwachman-Diamond syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 14, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000577921.2
Allele description [Variation Report for NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)]
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)
Condition(s)
-
Taxonomy Links for Nucleotide (Select 1039024164) (1)
Taxonomy
-
Pacific flying fox faeces associated circular DNA virus-1 isolate Tbat_H_1180, c...
Pacific flying fox faeces associated circular DNA virus-1 isolate Tbat_H_1180, complete genomegi|992391414|gb|KT732821.1|Nucleotide
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LOC127821083 [Homo sapiens]
LOC127821083 [Homo sapiens]Gene ID:127821083Gene
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Conserved Domain Links for Protein (Select 395455071) (2)
Conserved Domains
-
annexin A2 isoform 2 [Homo sapiens]
annexin A2 isoform 2 [Homo sapiens]gi|4757756|ref|NP_004030.1|Protein
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Last Updated: Sep 23, 2023